(used for variant description)
(last modified May 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_033326.3 in the SOX6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012881.1, covering SOX6 transcript NM_033326.3.
(upstream sequence)
. g.5018
gtcactttcatgaattca c.-61
. . . . . . | 02 g.140141
aaggcaatttaccagtgatttctgggtgctggggctgatattttttgtgcatattt | aaga c.-1
. . . . . . g.140201
ATGTCTTCCAAGCAAGCCACCTCTCCATTTGCCTGTGCAGCTGATGGAGAGGATGCAATG c.60
M S S K Q A T S P F A C A A D G E D A M p.20
. . . . . . g.140261
ACCCAGGATTTAACCTCAAGGGAAAAGGAAGAGGGCAGTGATCAACATGTGGCCTCCCAT c.120
T Q D L T S R E K E E G S D Q H V A S H p.40
. . . . . . g.140321
CTGCCTCTGCACCCCATAATGCACAACAAACCTCACTCTGAGGAGCTACCAACACTTGTC c.180
L P L H P I M H N K P H S E E L P T L V p.60
. . . . . | 03. g.162739
AGTACCATTCAACAAGATGCTGACTGGGACAGCGTTCTGTCATCTCAGCAAAGAATG | GAA c.240
S T I Q Q D A D W D S V L S S Q Q R M | E p.80
. . . . . . g.162799
TCAGAGAATAATAAGTTATGTTCCCTATATTCCTTCCGAAATACCTCTACCTCACCACAT c.300
S E N N K L C S L Y S F R N T S T S P H p.100
. . . . . . g.162859
AAGCCTGACGAAGGGAGTCGGGACCGTGAGATAATGACCAGTGTTACTTTTGGAACCCCA c.360
K P D E G S R D R E I M T S V T F G T P p.120
. . . . . . g.162919
GAGCGCCGCAAAGGGAGTCTTGCCGATGTGGTGGACACACTGAAACAGAAGAAGCTTGAG c.420
E R R K G S L A D V V D T L K Q K K L E p.140
. . | 04 . . . . g.246753
GAAATGACTCGGACTGAACAAGAGG | ATTCCTCCTGCATGGAAAAACTACTTTCAAAAGAT c.480
E M T R T E Q E D | S S C M E K L L S K D p.160
. . . . . | 05 . g.294439
TGGAAGGAAAAAATGGAAAGACTAAATACCAGTGAACTTCTTGGAGAAATTAAAG | GTACA c.540
W K E K M E R L N T S E L L G E I K G | T p.180
. . . . . . g.294499
CCTGAGAGCCTGGCAGAAAAAGAACGGCAGCTCTCCACCATGATTACCCAGCTGATCAGT c.600
P E S L A E K E R Q L S T M I T Q L I S p.200
. . . . . . g.294559
TTACGGGAGCAGCTACTGGCAGCGCATGATGAACAGAAAAAACTGGCAGCGTCACAAATT c.660
L R E Q L L A A H D E Q K K L A A S Q I p.220
. . . . | 06 . g.297447
GAGAAACAACGGCAGCAAATGGACCTTGCTCGCCAACAGCAAGAACAG | ATTGCGAGACAA c.720
E K Q R Q Q M D L A R Q Q Q E Q | I A R Q p.240
. . . . . | 07. g.369469
CAGCAGCAACTTCTGCAACAGCAGCACAAAATTAATCTCCTGCAGCAACAGATCCAG | GTT c.780
Q Q Q L L Q Q Q H K I N L L Q Q Q I Q | V p.260
. . . . . . g.369529
CAGGGTCACATGCCTCCGCTCATGATCCCAATTTTTCCACATGACCAGCGGACTCTGGCA c.840
Q G H M P P L M I P I F P H D Q R T L A p.280
. . . . . | 08 g.383703
GCAGCTGCTGCTGCCCAACAGGGATTCCTCTTCCCCCCTGGAATAACATACAAACCAG | GT c.900
A A A A A Q Q G F L F P P G I T Y K P G | p.300
. . . . . . g.383763
GATAACTACCCCGTACAGTTCATTCCATCAACAATGGCAGCTGCTGCTGCTTCTGGACTC c.960
D N Y P V Q F I P S T M A A A A A S G L p.320
. | 09 . . . . g.385313
AGCCCTTTACAGCTCCAG | AAGGGTCATGTCTCCCACCCACAAATTAACCAAAGGCTAAAG c.1020
S P L Q L Q | K G H V S H P Q I N Q R L K p.340
. . . . . . g.385373
GGCCTAAGTGACCGTTTTGGCAGGAATTTGGACACCTTTGAACATGGTGGTGGCCACTCT c.1080
G L S D R F G R N L D T F E H G G G H S p.360
. . | 10 . . . . g.425527
TACAACCACAAACAGATTGAG | CAGCTCTATGCCGCTCAGCTGGCCAGCATGCAGGTGTCA c.1140
Y N H K Q I E | Q L Y A A Q L A S M Q V S p.380
. . . . . . g.425587
CCTGGAGCAAAGATGCCATCAACTCCACAGCCACCAAACACAGCAGGGACGGTCTCACCT c.1200
P G A K M P S T P Q P P N T A G T V S P p.400
. . . . . | 11 . g.431460
ACTGGGATAAAAAATGAAAAGAGAGGGACCAGCCCTGTAACTCAAGTTAAG | GATGAAGCA c.1260
T G I K N E K R G T S P V T Q V K | D E A p.420
. . . . . . g.431520
GCAGCACAGCCTCTGAATCTCTCATCCCGACCCAAGACAGCAGAGCCTGTAAAGTCCCCA c.1320
A A Q P L N L S S R P K T A E P V K S P p.440
. . . . . . g.431580
ACGTCTCCCACCCAGAACCTCTTCCCAGCCAGCAAAACCAGCCCTGTCAATCTGCCAAAC c.1380
T S P T Q N L F P A S K T S P V N L P N p.460
. . . . . | 12 . g.434693
AAAAGCAGCATCCCTAGCCCCATTGGAGGAAGCCTGGGAAGAGGATCCTCTTTAG | ATATC c.1440
K S S I P S P I G G S L G R G S S L D | I p.480
. . . . . . g.434753
CTATCTAGTCTCAACTCCCCTGCCCTTTTTGGGGATCAGGATACAGTGATGAAAGCCATT c.1500
L S S L N S P A L F G D Q D T V M K A I p.500
. . . . . . g.434813
CAGGAGGCGCGGAAGATGCGAGAGCAGATCCAGCGGGAGCAACAGCAGCAACAGCCACAT c.1560
Q E A R K M R E Q I Q R E Q Q Q Q Q P H p.520
. . . . . . g.434873
GGTGTTGACGGGAAACTGTCCTCCATAAATAATATGGGGCTGAACAGCTGCAGGAATGAA c.1620
G V D G K L S S I N N M G L N S C R N E p.540
| 13 . . . . . . g.466396
AAG | GAAAGAACGCGCTTTGAGAATTTGGGGCCCCAGTTAACGGGAAAGTCAAATGAAGAT c.1680
K | E R T R F E N L G P Q L T G K S N E D p.560
. . . . . | 14 . g.492227
GGAAAACTGGGCCCAGGTGTCATCGACCTTACTCGGCCAGAAGATGCAGAGG | GAGGTGCC c.1740
G K L G P G V I D L T R P E D A E G | G A p.580
. . . . . . g.492287
ACTGTGGCTGAAGCACGAGTCTACAGGGACGCCCGCGGCCGTGCCAGCAGCGAGCCACAC c.1800
T V A E A R V Y R D A R G R A S S E P H p.600
. . . . . . g.492347
ATTAAGCGACCAATGAATGCATTCATGGTTTGGGCAAAGGATGAGAGGAGAAAAATCCTT c.1860
I K R P M N A F M V W A K D E R R K I L p.620
. . . . | 15 . . g.494983
CAGGCCTTCCCCGACATGCATAACTCCAACATTAGCAAAATCTTAG | GATCTCGCTGGAAA c.1920
Q A F P D M H N S N I S K I L G | S R W K p.640
. . . . . . g.495043
TCAATGTCCAACCAGGAGAAGCAACCTTATTATGAAGAGCAGGCCCGGCTAAGCAAGATC c.1980
S M S N Q E K Q P Y Y E E Q A R L S K I p.660
. . . . . . g.495103
CACTTAGAGAAGTACCCAAACTATAAATACAAACCCCGACCGAAACGCACCTGCATTGTT c.2040
H L E K Y P N Y K Y K P R P K R T C I V p.680
. . . . . . g.495163
GATGGCAAAAAGCTTCGGATTGGGGAGTATAAGCAACTGATGAGGTCTCGGAGACAGGAG c.2100
D G K K L R I G E Y K Q L M R S R R Q E p.700
. . | 16 . . . . g.508314
ATGAGGCAGTTCTTTACTGTGGG | GCAACAGCCTCAGATTCCAATCACCACAGGAACAGGT c.2160
M R Q F F T V G | Q Q P Q I P I T T G T G p.720
. . . . . . g.508374
GTTGTGTATCCTGGTGCTATCACTATGGCAACTACCACACCATCGCCTCAGATGACATCT c.2220
V V Y P G A I T M A T T T P S P Q M T S p.740
. . . . . . g.508434
GACTGCTCTAGCACCTCGGCCAGCCCGGAGCCCAGCCTCCCGGTCATCCAGAGCACTTAT c.2280
D C S S T S A S P E P S L P V I Q S T Y p.760
. . . . . . g.508494
GGTATGAAGACAGATGGCGGAAGCCTAGCTGGAAATGAAATGATCAATGGAGAGGATGAA c.2340
G M K T D G G S L A G N E M I N G E D E p.780
. . . . . . g.508554
ATGGAAATGTATGATGACTATGAAGATGACCCCAAATCAGACTATAGCAGTGAAAATGAA c.2400
M E M Y D D Y E D D P K S D Y S S E N E p.800
. . g.508581
GCCCCGGAGGCTGTCAGTGCCAACTGA c.2427
A P E A V S A N X p.808
. . . . . . g.508641
ggagtttttgtttgctgaattaaagtactctgacatttcacccccctccccaacaaagag c.*60
. . . . . . g.508701
ttattaaagagcccgcatgcatttgtggctccacaattacatcagcagaatggtcttaat c.*120
. . . . . . g.508761
tgtttcgtaaagtgtgagacagattaagttttccctgatttttcatgaacttgagttttt c.*180
. . . . . . g.508821
tgttgttattgttattgttgttgttgttgtttttttaatttaggtgaagacatattaaat c.*240
. . . . . . g.508881
atgagacaccaggacttgaaacttatctcaacccgtagatgtcttacaagtcttatattt c.*300
. . . . . . g.508941
ttgtcttactttttttttcttttggatgttgataaaggtttaagttactgttttagatgg c.*360
. . . . . . g.509001
ggttaaacattctcactcaggtatgctgtgccggcctacaggttgtgaatgtgtttttat c.*420
. . . . . . g.509061
tctgaattattttagaaaacaactgaggatttcatattgtgaaacagaacaagtccacgg c.*480
. . . . . . g.509121
cgtgtgcagctgcatgtagagcatattcaaaaggcctcggaattccaattttccatttgt c.*540
. . . . . . g.509181
agagttaaactttgaatgtgccaaactttttcgtaacttttgaatcttaatattttgaaa c.*600
. . . . . . g.509241
gtcttaaaggagacactgcaaagtcttagacaatctttggcatcttaaaataaaatagca c.*660
. . . . . . g.509301
aaccaacatttttttttccagaaaatggtaaggtactcaggaatctggagacaagatatt c.*720
. . . . . . g.509361
gtaaggaatgaacaaggttgccacagtgcatggacccaattgtgtttgcctgttgacgtg c.*780
. . . . . . g.509421
ccatcagtgcgtgatgtggtatgacatacacacaccagagcaaccgccacaccagatatc c.*840
. . . . . . g.509481
gacagagtggtcttctctgcctgagaccacctctcactacatccattatccctttgcctt c.*900
. . . . . . g.509541
taaccctgacattcagtcttaacacattttatcttaaataatttattcattccagaatgt c.*960
. . . . . . g.509601
caagggtccacttgctatttattttttttcaattgttggtggcattaatttaataattct c.*1020
. . . . . . g.509661
tgtttttcaccttccttccccgaagaacttttccgtccttttcacctccttctcctgtgt c.*1080
. . . . . . g.509721
acatagtgattttatgtccccagaacgcctggaagcatttctgaaaccaagatattatta c.*1140
. . . . . . g.509781
aaaacctattattgtttttaatcatgagtatgtatctggctgcagggctgtgtattggga c.*1200
. . . . . . g.509841
tataggtatatagtcttacacttaaacaggtatgcccctgaggttcactgtgacctcaag c.*1260
. . . . . . g.509901
tcttttgccagaattttcccctaattcagttcacaagtggtagggtctgcatcagtggca c.*1320
. . . . . . g.509961
tttccccctgaattccattcagcagcaaggttcaacagtggtgactgccaggcaggagag c.*1380
. . . . . . g.510021
tcctgcggccaaacctgaagcccaaggctcgtgggccatgcaggaatctcagtgaagctg c.*1440
. . . . . . g.510081
tcatgggctggcacctttacactgagttgccttgtcccagctggcacatctagggagttc c.*1500
. . . . . . g.510141
attgcaaaatccccaggatgcaaaaagccacatgacagcctcagagcaaagatggtggca c.*1560
. . . . . . g.510201
aatagtcatgatacatctagagaatgaaagaaaactgtaagggaggagaaggaggggaat c.*1620
. . . . . . g.510261
acattccctatatgggatgttcctactgttaactctggggaacagatagctccgggggca c.*1680
. . . . . . g.510321
gcagatgagttcctctggctgactctatctgtagccacatggggacctgcctacgtgtga c.*1740
. . . . . . g.510381
acaaaatgaactgcacttatcacacaaggatttctttgaagacatgctactggggtggga c.*1800
. . . . . . g.510441
agcagtgaggttttattccccatctcctaactacagggagctctgccatgtcattttggc c.*1860
. . . . . . g.510501
cttcctgaaactaggacaggttgtctatcggggggcttcccccagagaggtttagtggga c.*1920
. . . . . . g.510561
gaatgtcagtgaatgggatagttcacctcatgggacaacccagaatctgatcaccaggac c.*1980
. . . . . . g.510621
ataggaatggccccatcagatttcttgagccattttgtcacttggaagaaaatagtgtac c.*2040
. . . . . . g.510681
ctttgtatttatttaagagtgctcaaggcctaatagcaataaacaggtctagccaagaaa c.*2100
. . . . . . g.510741
ttacaagctattctgttagctgggagtgctctctataagctgattaaggtactgatagga c.*2160
. . . . . . g.510801
actctttgttattcatgttggttggggattagaaatttgtttttgtacatttatttcaaa c.*2220
. . . . . . g.510861
tgaggaggaggtcattttttctctcaaaaaatgagtatttattattgtcttactgatttc c.*2280
. . . . . . g.510921
tttgattatatacctctcctcctcagttcactcttgttttttttctttctctttggcttt c.*2340
. . . . . . g.510981
tgcttttgctctctctcacttctttcttattttgttgcattggtagagtgttgtatggct c.*2400
. . . . . . g.511041
agcattgtattgtatgtaattaattttgcacaaaagcaaacatttagcatagtaggttaa c.*2460
. . . . . . g.511101
ttttgtttgtttttatgaccatgccaaaataatattctgggctggtggagaacaaaggac c.*2520
. . . . . . g.511161
tgttctttaggactgaaacttgattttgctcatagtaagtaaaaaaaaacaaaaaacaca c.*2580
. . . . . . g.511221
cacactcacagatgttgtttcgtaagtgttataagcactggatataaatggtatttttta c.*2640
. . . . . . g.511281
tcacttctgactaatgtgaaactgttgtacgaaaactacatgaacaaaagtcatctgttt c.*2700
. . . . . . g.511341
cgactcgtgtgggcttgcctcacagttgccggatttgagtcatttttatgtcttgttatt c.*2760
. . . . . . g.511401
tcatttatttatgcaaaatacatgtgtgtatgaacactttgttttagctccagctctgcc c.*2820
. . . . . . g.511461
tcagtactggggttcatttacttttagccatgttcttaaaaatgaaaggctattcaggaa c.*2880
. . . . . . g.511521
tgatctgattgtaaacgtctttttcattggatcaaacagtaatgctgtatttgaatctaa c.*2940
. . . . . . g.511581
attttgtgtataagcagtttatttattagccaagtttggctctaaatatccatggaaatt c.*3000
. . . . . . g.511641
aagaatgacaatcatagggatcaattcattttattttcagtggggcttaaacaaagttta c.*3060
. . . . . . g.511701
tatgactttaccatctcattttagatttttctaattgtgtaaatataacatagaaataga c.*3120
. . . . . . g.511761
atttatttttggttcatgaatacttagtgagatataagttatgtatttcctttttgttct c.*3180
. . . . . . g.511821
ctatccatagatgttggtccaaactgaaagttgatgagtcactgtgcctctcggggtagt c.*3240
. . . . . . g.511881
gagttatcagctacagtgagagagcagtgtttggcctgcagctgggacagcaaaacgttt c.*3300
. . . . . . g.511941
caccagggttctcatgcagttcagaacccactgtccacagatccagacatttcccttttt c.*3360
. . . . . . g.512001
tcttacagaaagttgatgattggacatactaaatttccactacagttaggagacagtcag c.*3420
. . . . . . g.512061
tttgctttgggagtctacataaatcttctaagatagttctgtgaccatttaatagcaaga c.*3480
. . . . . . g.512121
agcatgaatgccactacaaaggcaaaaatccacctctgagatcggccgttaataaacgtc c.*3540
. . . . . . g.512181
ccgtcatgtcagtttagattcaagaatgttaagcaactttgtttttgcggtgctccctat c.*3600
. . . . . . g.512241
ttcatagtatcttcaaatcaaaaataaaaattatctccattttgttaaagaacttacagg c.*3660
. . . . . . g.512301
gtcagggttctccttgtcacttagaattgggacactgccaggcaatcctctcccaaaaaa c.*3720
. . . . . . g.512361
aaaaaaaaaaaaaaatagccatatggaatggaaggaaaaggagaaaagaaggaagaaagg c.*3780
. . . . . . g.512421
aaaaaagtaggaagggagagagaaaaaaaaggtcgctttgcggatacgagccgctaggct c.*3840
. . . . . . g.512481
gacaacttttctatttcattggcagatatgaagcagtgtcttttccagtaaggtacggaa c.*3900
. . . . . . g.512541
gctttgttgttttcatgtgtacccagctcagccttttagaagcacctcggtttgcttcat c.*3960
. . . . . . g.512601
taggtatttgatactctccagccttgtcctcaggcctgatttgatttgccagggtcctga c.*4020
. . . . . . g.512661
caccaaagcccaggccaagttctaaattcaggtgtgggctcacagtgctattgagcttgt c.*4080
. . . . . . g.512721
cgaattctggcctcccctgaacattagccccacgggagcctgagggtgtttgaaaagggc c.*4140
. . . . . . g.512781
gtgatcactctagggctgaaattaaaggctgctttcttttccttctgaagccaggctgct c.*4200
. . . . . . g.512841
tcttcggagtacaccctcctgagccaggagcacaagcactagcagaaagcagggattgtt c.*4260
. . . . . . g.512901
tcaggaaagcccatttaccctcagtaggaaggcagcctggtcacttgaacagcacagctg c.*4320
. . . . . . g.512961
aggctgcttctctcaatttactcattttgcaaagaattgacctctaccaactcattaggg c.*4380
. . . . . . g.513021
agaggaaaaagaatcacttagtaattttaaatcatatgagaagtcctgtaccaagtgcca c.*4440
. . . . . . g.513081
acaactgcaaagaaatgcagctagaggaatgtattgaaattactactgggtcttcctttt c.*4500
. . . . . . g.513141
taatgagaaaatgacaaaaatggttgctgtagccctgcctgattttgtacacgtttgtct c.*4560
. . . . . . g.513201
aagaattgagttggcacttaagctcacttctcaaagtataataatattgtatgacctcat c.*4620
. . . . . . g.513261
ttgtcctttcacaaaagcacttgcatcatttccttaagtcatctgctccctgacatgttt c.*4680
. . . . . . g.513321
tcttccctaataaacaacttctgtctgttattcctgccaatgatgttctgtttctgatgc c.*4740
. . . . . . g.513381
catatcctattgagcgtgcccctgtactaatatcattgaaaatattgatatgcaaacaca c.*4800
. . . . . . g.513441
tttccttttcatccccattctatctttccctttggggacagattgctttccaaaagctca c.*4860
. . . . . . g.513501
tgaacaaatatttggaatgctggtacctttggggcagaggtaagggtgggcggggtgggg c.*4920
. . . . . . g.513561
gcagaaaggtaatgcttaatgcagataactcttctaatcagtgtccatggcaatatgaac c.*4980
. . . . . . g.513621
gcttgaagaaaactcagtgacatatcttgctcagtagtttcttattcctgaagaaccaca c.*5040
. . . . . . g.513681
agcataaagtgaggcctcagtgctggtgctcttggagtatggggaatgtgcaaatattta c.*5100
. . . . . . g.513741
actgttttgtatgctgcacattgcaggtctgctcatgtgcattctccctttgtcttcctt c.*5160
. . . . . . g.513801
tgtcatatgtgtttttgcttttttgaaagtgcagtctttattgtaccctcctccagcttg c.*5220
. . . . . . g.513861
tagcaaattagaatgcttagcatttatgttcattcattattgtatttgccatgtaaaatt c.*5280
. . . . . . g.513921
tttattaccttagacaagcttataagctgttactacataacttatcttactgtaactctt c.*5340
. . . . . . g.513981
ttatttcccccgacgttgtaatttgtttgtgatgtatattgtgaaattgtattctatgtt c.*5400
. . . . . . g.514041
aatttaatcagcacaattcactgacatgctggactgacatgctggctgctgtttcaaagt c.*5460
. . . . . . g.514101
gtaaagtttgtgtagggctgttgggacaactgcaactctgttgtcaaggtactgtgcttt c.*5520
. . . . . . g.514161
ggttcctatagcaacactgggtgtggcccttgaattgctaagggcatttaatacatcctg c.*5580
. . . . . . g.514221
gagcaaattttaactgcagattttctttgtagaaattctatgtataatgcaggtacctac c.*5640
. . . . . . g.514281
ttggcccatggctggtaactatttgggcaattagaaaaaaagaaaaaaacataaaaacta c.*5700
. . . . . . g.514341
gtgtctattgctgctttgaatatgtttgaaagtctgaaaatgtaaatagtttatcaaaaa c.*5760
. . . . . . g.514401
aaaatcttgtacagtccagtgtaaagtttttaaatgaccttaagggttgccatcacatct c.*5820
. . . . . . g.514461
ttctcacactctcctcttgataataataataataaaaagtttgctaaggattaaagaaat c.*5880
. . . . . . g.514521
gggaaaaataaaaaaaatctcttcaaatttacaggaatgaatcattgttcttagctttgt c.*5940
. . . . . . g.514581
tgcatacacaaacttcttggattttgttgtgcagtattgacgtgagataaagctcaacat c.*6000
. . . . . . g.514641
tgaataatctttcagtggtacttttcaaagtcttcccctcctctgcctcataattaaggg c.*6060
. . . . . . g.514701
aaaagacaaaattgaaagacacactgtctttatctatcctggtgtatgttggcaccttag c.*6120
. . . . . . g.514761
ctactttttttttttcctttttgcacaaggtgctttcctgatatgttcaacatgccatct c.*6180
. . . . . . g.514821
ttgggtgataatgtatatgccgtgatggggctcaggccccttaggggagtgtctataaga c.*6240
. . . . . . g.514881
actgcctatttatgctcatttacctcaagactgtcctctctaccctaatctagttgtcat c.*6300
. . . . . . g.514941
cactccatcttttgtactgctgttgacacttacaaattaaagataaattttgttttatga c.*6360
(downstream sequence)
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