(used for variant description)
(last modified October 17, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001145358.1 in the SIN3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering SIN3A transcript NM_001145358.1.
(upstream sequence)
. . . . . g.9094
agctgagtcttccctctgcggggcggggtcgggggagtgggcgggatttcccgggta c.-301
. . . . . . g.9154
acagagaagcggccgcggcggtagaggcggcggagacggtttctccatcttcccccctcc c.-241
. . . . . . g.9214
ccttcccccctcggagtttccctccctccctccctccctccttcccagtctgggcaccgg c.-181
. . . . . . g.9274
agcctgtgaccgcttcgttagtggagaggtagctggcagtccgcttcggcgggcctgtgc c.-121
. . . . . . g.9334
cccgcgccgttctcggggcctccctgctgagctcgcggctcacgctgagagggacacgca c.-61
. . . | 02 . . . g.30408
gtgacgagcggccgaagcagctttgcg | gttttgtagtgcatccctgagcatgagcacaga c.-1
. . . . . . g.30468
ATGAAGCGGCGTTTGGATGACCAGGAGTCACCGGTGTATGCAGCCCAGCAGCGTCGGATC c.60
M K R R L D D Q E S P V Y A A Q Q R R I p.20
. . . . . . g.30528
CCTGGCAGCACAGAGGCTTTTCCTCACCAGCACCGGGTGCTTGCCCCTGCCCCTCCTGTG c.120
P G S T E A F P H Q H R V L A P A P P V p.40
. . . . . . g.30588
TATGAAGCAGTGTCTGAGACCATGCAGTCAGCTACGGGAATTCAGTACTCTGTAACACCC c.180
Y E A V S E T M Q S A T G I Q Y S V T P p.60
| 03 . . . . . g.38011
AGCTACCAG | GTTTCAGCCATGCCACAGAGCTCCGGCAGTCATGGGCCCGCTATAGCAGCA c.240
S Y Q | V S A M P Q S S G S H G P A I A A p.80
. . . . . . g.38071
GTTCATAGCAGCCATCATCACCCAACAGCGGTGCAGCCCCACGGAGGCCAGGTGGTCCAG c.300
V H S S H H H P T A V Q P H G G Q V V Q p.100
. . . . . . g.38131
AGTCATGCTCATCCAGCCCCACCAGTTGCACCAGTGCAGGGACAGCAGCAATTTCAGAGG c.360
S H A H P A P P V A P V Q G Q Q Q F Q R p.120
| 04 . . . . . . g.46526
CTGAAG | GTGGAGGATGCGCTATCTTATCTTGACCAGGTGAAGCTGCAGTTTGGTAGTCAG c.420
L K | V E D A L S Y L D Q V K L Q F G S Q p.140
. . . . . | 05 . g.47745
CCTCAGGTCTACAATGATTTCCTTGACATCATGAAGGAATTTAAATCTCAGAG | CATCGAC c.480
P Q V Y N D F L D I M K E F K S Q S | I D p.160
. . . . . . g.47805
ACCCCAGGAGTGATTAGTCGTGTGTCCCAGCTATTCAAAGGCCACCCCGATCTGATAATG c.540
T P G V I S R V S Q L F K G H P D L I M p.180
. . . . . . g.47865
GGATTCAACACCTTCTTGCCCCCTGGCTACAAAATTGAGGTGCAAACCAATGACATGGTG c.600
G F N T F L P P G Y K I E V Q T N D M V p.200
. . . . . . g.47925
AATGTGACAACTCCTGGCCAGGTTCATCAGATTCCCACCCATGGCATCCAGCCACAGCCT c.660
N V T T P G Q V H Q I P T H G I Q P Q P p.220
. . . . . . g.47985
CAACCACCACCCCAACATCCTTCCCAGCCTTCAGCCCAGTCAGCCCCAGCTCCTGCCCAG c.720
Q P P P Q H P S Q P S A Q S A P A P A Q p.240
. . . | 06 . . . g.49064
CCAGCTCCTCAGCCCCCACCTGCCAAAGTCAGCAAG | CCCTCCCAACTGCAAGCACATACT c.780
P A P Q P P P A K V S K | P S Q L Q A H T p.260
. . . . . . g.49124
CCGGCCAGTCAGCAGACTCCCCCACTTCCACCGTATGCATCCCCACGTTCTCCGCCGGTC c.840
P A S Q Q T P P L P P Y A S P R S P P V p.280
. . . . . . g.49184
CAGCCTCACACACCAGTGACAATCTCGTTGGGAACGGCCCCATCCTTGCAGAACAATCAA c.900
Q P H T P V T I S L G T A P S L Q N N Q p.300
. . . . . . g.49244
CCTGTGGAGTTTAATCATGCCATCAACTATGTTAATAAGATCAAGAACAGATTTCAGGGC c.960
P V E F N H A I N Y V N K I K N R F Q G p.320
. . . . | 07 . g.50509
CAACCAGACATCTACAAAGCATTCCTGGAGATTTTGCACACATATCAG | AAAGAGCAGAGA c.1020
Q P D I Y K A F L E I L H T Y Q | K E Q R p.340
. . . . . . g.50569
AATGCCAAGGAAGCTGGAGGAAACTACACTCCAGCATTGACAGAGCAGGAGGTGTATGCC c.1080
N A K E A G G N Y T P A L T E Q E V Y A p.360
. . . . . . g.50629
CAGGTTGCTCGTCTCTTTAAAAACCAGGAAGATTTGTTGTCAGAGTTTGGACAATTCCTA c.1140
Q V A R L F K N Q E D L L S E F G Q F L p.380
. . | 08 . . . . g.50831
CCAGATGCCAACAGCTCCGTG | CTTTTAAGCAAAACAACTGCTGAGAAGGTTGATTCTGTG c.1200
P D A N S S V | L L S K T T A E K V D S V p.400
. . . . . . g.50891
AGAAATGATCATGGAGGCACTGTCAAGAAGCCCCAACTGAACAACAAGCCGCAGAGGCCC c.1260
R N D H G G T V K K P Q L N N K P Q R P p.420
. . . . . | 09. g.53642
AGCCAGAATGGCTGCCAGATCCGCAGACATCCTACAGGAACCACCCCTCCAGTTAAG | AAG c.1320
S Q N G C Q I R R H P T G T T P P V K | K p.440
. . . . . . g.53702
AAACCCAAACTGCTCAATCTGAAGGATTCTTCTATGGCAGATGCCAGCAAACATGGTGGT c.1380
K P K L L N L K D S S M A D A S K H G G p.460
. . | 10. . . . g.58846
GGAACAGAATCGTTATTTTTTGATAAG | GTCCGAAAGGCTCTTCGGAGTGCAGAAGCCTAC c.1440
G T E S L F F D K | V R K A L R S A E A Y p.480
. . . . . . g.58906
GAAAATTTCCTACGCTGTCTTGTTATTTTTAACCAGGAGGTGATCTCTCGTGCTGAGCTT c.1500
E N F L R C L V I F N Q E V I S R A E L p.500
. . | 11 . . . . g.59877
GTGCAACTAGTCTCTCCTTTCCTGGG | GAAATTCCCTGAGTTGTTTAATTGGTTTAAAAAC c.1560
V Q L V S P F L G | K F P E L F N W F K N p.520
. . . . . . g.59937
TTTCTGGGCTATAAGGAGTCTGTACATCTGGAAACTTATCCAAAGGAGCGAGCCACAGAG c.1620
F L G Y K E S V H L E T Y P K E R A T E p.540
. . . . . . g.59997
GGCATTGCTATGGAGATAGATTATGCTTCTTGTAAACGATTGGGCTCCAGCTATCGAGCC c.1680
G I A M E I D Y A S C K R L G S S Y R A p.560
. . . . . | 12. g.60630
TTACCAAAGAGTTACCAGCAGCCCAAGTGTACAGGACGGACTCCTCTCTGTAAAGAG | GTT c.1740
L P K S Y Q Q P K C T G R T P L C K E | V p.580
. . . . . . g.60690
TTAAATGATACCTGGGTTTCCTTCCCTTCGTGGTCTGAGGACTCTACCTTTGTGAGTTCC c.1800
L N D T W V S F P S W S E D S T F V S S p.600
. . . . . | 13 . g.64293
AAGAAGACTCAATATGAAGAACATATTTATCGTTGTGAAGATGAACGCTTTGAG | CTTGAT c.1860
K K T Q Y E E H I Y R C E D E R F E | L D p.620
. . . . . . g.64353
GTAGTTTTAGAGACCAATCTGGCAACAATCCGGGTTCTGGAAGCAATACAGAAGAAGCTT c.1920
V V L E T N L A T I R V L E A I Q K K L p.640
. . . . . . g.64413
TCCCGCTTGTCTGCTGAAGAACAAGCCAAATTTCGCTTGGACAACACCCTTGGGGGCACA c.1980
S R L S A E E Q A K F R L D N T L G G T p.660
. . . . . . g.64473
TCAGAAGTCATCCATAGAAAAGCACTCCAGAGGATATATGCTGATAAAGCAGCTGACATC c.2040
S E V I H R K A L Q R I Y A D K A A D I p.680
. . . . . | 14 . g.65927
ATTGATGGTCTGAGAAAGAATCCCTCCATTGCTGTTCCAATTGTCCTTAAAAG | GTTGAAG c.2100
I D G L R K N P S I A V P I V L K R | L K p.700
. . . . . . g.65987
ATGAAAGAGGAAGAATGGCGAGAAGCTCAGAGAGGCTTTAACAAAGTATGGCGAGAACAA c.2160
M K E E E W R E A Q R G F N K V W R E Q p.720
. . . . . . g.66047
AATGAGAAATACTACTTGAAGTCTCTGGACCACCAGGGGATCAACTTTAAACAGAATGAC c.2220
N E K Y Y L K S L D H Q G I N F K Q N D p.740
. . . . . | 15. g.67971
ACCAAGGTCCTGAGGTCTAAGAGCTTACTCAATGAGATTGAGAGTATCTATGATGAG | AGG c.2280
T K V L R S K S L L N E I E S I Y D E | R p.760
. . . . . . g.68031
CAAGAGCAGGCTACGGAGGAGAATGCTGGTGTACCTGTTGGCCCACACCTCTCACTTGCG c.2340
Q E Q A T E E N A G V P V G P H L S L A p.780
. . . . . . g.68091
TATGAAGACAAACAAATACTGGAAGATGCTGCTGCTCTGATTATCCACCATGTGAAGAGG c.2400
Y E D K Q I L E D A A A L I I H H V K R p.800
. . . . . . g.68151
CAGACAGGCATTCAGAAGGAGGACAAATATAAGATAAAACAAATCATGCATCATTTTATT c.2460
Q T G I Q K E D K Y K I K Q I M H H F I p.820
. . . . . . g.68211
CCAGATTTGCTCTTTGCCCAAAGAGGTGATCTCTCAGATGTGGAGGAAGAGGAAGAAGAA c.2520
P D L L F A Q R G D L S D V E E E E E E p.840
. . . . . . g.68271
GAGATGGATGTAGATGAAGCCACAGGGGCAGTTAAGAAGCACAATGGTGTTGGGGGCAGT c.2580
E M D V D E A T G A V K K H N G V G G S p.860
. . . . . . g.68331
CCCCCTAAGTCCAAGTTACTGTTTAGTAACACAGCAGCTCAAAAATTAAGAGGAATGGAT c.2640
P P K S K L L F S N T A A Q K L R G M D p.880
. . . . . . g.68391
GAAGTATACAACCTCTTCTATGTCAACAACAACTGGTATATTTTTATGCGACTGCACCAG c.2700
E V Y N L F Y V N N N W Y I F M R L H Q p.900
. . . . . . g.68451
ATTCTCTGCCTGAGGCTGCTACGGATTTGTTCCCAAGCCGAACGGCAAATTGAAGAAGAA c.2760
I L C L R L L R I C S Q A E R Q I E E E p.920
. . . . . . g.68511
AACCGAGAGAGAGAATGGGAACGGGAAGTGCTGGGCATAAAGCGAGACAAGAGTGACAGC c.2820
N R E R E W E R E V L G I K R D K S D S p.940
. . . | 16 . . . g.70991
CCTGCCATTCAGCTACGTCTCAAAGAACCTA | TGGATGTTGATGTAGAAGATTATTACCCA c.2880
P A I Q L R L K E P M | D V D V E D Y Y P p.960
. . . . . . g.71051
GCTTTCCTGGACATGGTGCGGAGCCTGCTGGATGGCAACATAGACTCATCACAGTATGAA c.2940
A F L D M V R S L L D G N I D S S Q Y E p.980
. . . . . . g.71111
GATTCACTGAGAGAGATGTTCACCATTCATGCCTACATTGCCTTTACCATGGACAAACTG c.3000
D S L R E M F T I H A Y I A F T M D K L p.1000
. . | 17 . . . . g.76385
ATCCAGAGCATTGTCAGACAG | CTGCAGCATATCGTGAGTGATGAGATCTGTGTGCAGGTG c.3060
I Q S I V R Q | L Q H I V S D E I C V Q V p.1020
. . . . . . g.76445
ACTGACCTTTACCTGGCAGAAAATAATAATGGGGCCACCGGAGGCCAGCTGAACACACAG c.3120
T D L Y L A E N N N G A T G G Q L N T Q p.1040
. . . . . . g.76505
AACTCAAGGAGCCTCCTGGAGTCAACGTATCAGCGGAAAGCTGAGCAGCTAATGTCAGAT c.3180
N S R S L L E S T Y Q R K A E Q L M S D p.1060
. | 18 . . . . . g.79123
GAGAATTGCTTTAAG | CTTATGTTTATTCAGAGCCAAGGCCAGGTCCAGCTGACTATTGAG c.3240
E N C F K | L M F I Q S Q G Q V Q L T I E p.1080
. . . . | 19 . g.80072
CTTCTGGACACAGAAGAGGAGAATTCGGATGACCCTGTGGAAGCAGAG | CGCTGGTCAGAC c.3300
L L D T E E E N S D D P V E A E | R W S D p.1100
. . . . . . g.80132
TACGTGGAGCGATACATGAATTCAGATACTACCTCGCCTGAGCTTCGTGAACATCTAGCA c.3360
Y V E R Y M N S D T T S P E L R E H L A p.1120
. . | 20 . . . . g.84948
CAGAAACCAGTATTTCTCCCCAG | GAATCTACGGCGGATCCGGAAGTGTCAACGTGGTCGA c.3420
Q K P V F L P R | N L R R I R K C Q R G R p.1140
. . . . . . g.85008
GAGCAGCAGGAAAAGGAAGGGAAGGAAGGAAACAGCAAGAAGACCATGGAGAATGTGGAT c.3480
E Q Q E K E G K E G N S K K T M E N V D p.1160
. . . . . . g.85068
AGTCTGGATAAGCTGGAGTGTAGATTCAAGCTGAATTCCTACAAGATGGTGTATGTGATC c.3540
S L D K L E C R F K L N S Y K M V Y V I p.1180
. . . . . | 21 . g.88583
AAATCAGAGGACTATATGTATCGGAGGACCGCCCTGCTCCGGGCTCATCAG | TCCCATGAG c.3600
K S E D Y M Y R R T A L L R A H Q | S H E p.1200
. . . . . . g.88643
CGTGTAAGCAAGCGTCTACATCAGAGATTCCAGGCCTGGGTAGATAAATGGACCAAGGAG c.3660
R V S K R L H Q R F Q A W V D K W T K E p.1220
. . . . . . g.88703
CATGTGCCCCGTGAAATGGCAGCAGAGACCAGCAAGTGGCTCATGGGTGAGGGGCTGGAG c.3720
H V P R E M A A E T S K W L M G E G L E p.1240
. . . . . . g.88763
GGCCTGGTGCCCTGTACCACCACCTGTGATACAGAGACCCTGCATTTTGTGAGCATTAAC c.3780
G L V P C T T T C D T E T L H F V S I N p.1260
. . . . g.88805
AAGTATCGTGTCAAATACGGCACAGTATTCAAAGCCCCTTAA c.3822
K Y R V K Y G T V F K A P X p.1273
. . . . . . g.88865
ctgcaaagccagagcagataacttggggtgtgtgtggggatgtgtgtgtgggcctatgca c.*60
. . . . . . g.88925
ctcacacactgaagaaacaaggaagatgcctttcaagcctcactgggcctctctgggaca c.*120
. . . . . . g.88985
tggccacctgacctgtgtgtggctggtgcagcctggcaccaagtgggctacctgttagga c.*180
. . . . . . g.89045
acatgaataccttacaaagctgaagctggaacttttcccaaagggttttgggtatagcct c.*240
. . . . . . g.89105
gccctggaggggaaggaagtccatgcaagcaaagacatgcagtttgcttgcacacaccag c.*300
. . . . . . g.89165
cagagctaagactggagtctcctgtggcctaactttcaatgagggaaccggatgctgttc c.*360
. . . . . . g.89225
acactttgactggatggagatgcatttacaaaacagactggagaaggacttaatactcag c.*420
. . . . . . g.89285
atggattggaactatcatggtcactgctcctctcccctccccacaaaaggaaaaaaaagc c.*480
. . . . . . g.89345
tggatttgattttttttttctggtcactcgagcacatctaagatcacccattaggtttta c.*540
. . . . . . g.89405
tctgggacctgcagtttggctttgggattgatcatcttgtggattttattcctgacgatt c.*600
. . . . . . g.89465
cccttgctgcctacccttttctctcctctggttctcaacctcaacgagttcaaatcagtt c.*660
. . . . . . g.89525
gtcctttttagctcccgtggaactgttttgtatctgcctctttactagtctaccttagtg c.*720
. . . . . . g.89585
ccatccaccagctttactctctgacacacacacgcacacacacacacaattttaacttgt c.*780
. . . . . . g.89645
ttttttgtacataatgtacatactgtcaattttttattaaaagaaatatgctttgatgtg c.*840
. . . . . . g.89705
ctagcataactgctctagcttcttgtgtaccatagtactgtggcttcagatttagtacct c.*900
. . . . . . g.89765
atgaacagatgtacaagacatttattacactttttaccaaagggagttaccattgtagta c.*960
. . . . . . g.89825
cttttgtgtaaaacttgtcttcccctttgcccccaacttttttttttttttttttgtaaa c.*1020
. . . . . . g.89885
taaataaagcttggttcttacttaaggaataaactctcaacccacgtcccttgtcctcac c.*1080
. . . . . . g.89945
cagaaaatactgtgaagcagggattttgacttcagttccttatccagggtagaaacagga c.*1140
. . . . . . g.90005
ttttgcttaaaatacttgttacttgtcccaaatcaaaatattccaaaatcttagaatact c.*1200
. . . . . . g.90065
taagtcttttagtacgtgtttttttcccttgttcaaataatctgaaaatattttatattt c.*1260
. . . . . . g.90125
gggtaagttgtcaagctatgtagtttgtatttctatatattttttcttattcacattggt c.*1320
. . . . . . g.90185
gatggatgggggtgagcaacttaaataccaaaccagtgtttgaaaaaaaagtgtgcataa c.*1380
. . . . . . g.90245
ggcatgtggtataccttataaatggagttgggagggagagaatttgaaatgggataccta c.*1440
. . . . . . g.90305
tttttttaattacataaatttaaactagcagacatttaaacatgaatgattaggattttt c.*1500
. . . . . . g.90365
ctatgtggttaacctggactttctgaacaaagaccaactgagcccctcccagtactctgg c.*1560
. . . . . . g.90425
tggatttttcttcagcaaccattacgcaagtcttagttgtaaccagcaatgttctgtgtg c.*1620
. . . . . . g.90485
ttttatgtttgctttttagttaaaaatcaccaccaccaccaaaaagaaaaacaaaatttt c.*1680
. . . . . . g.90545
ttggctcctggattttcaaaacacatggtagacctctctgattttaggcttttattgttt c.*1740
. . . . . . g.90605
aaagacagtgtctcgctttatgacccacactggagtgcagtgccacgatcatagctcact c.*1800
. . . . . . g.90665
gcaggcttgacctcccaggctcaagcagtcctcccacctcggcctcctgagtagctgcat c.*1860
. . . . . . g.90725
gccaccacgcccagctaattttttaactttttgtagagacagggtcttgctatgctgccc c.*1920
. . . . . . g.90785
aggttggtctcaaactcctggcctcaagctgtcctcccacctcggcctcgcaaagtgctg c.*1980
. . . . . . g.90845
agattacaggtgtgagccaccctggcctgattttaggctttttttgtactggggagaaga c.*2040
. . . . . . g.90905
gactgtgagccaaagtgtagggtgccaaaaagagctttgtgggatgagattttagggcaa c.*2100
. . . . . . g.90965
agctggggcagtgtctgacttggcggtggtcatgtgtactgatttaggggaaagatcttg c.*2160
. . . . . . g.91025
aggttttctcaaataattcacctatccccgtgttccctcaagaaaggtcatgttgacctg c.*2220
. . . . . . g.91085
gaaccataggggaaattggtggggtgtgatcagggtcagccccagctgttgctgcccctg c.*2280
. . . . . . g.91145
cagtgttttgtccagagcacttgcctgcaggtcaggataggatttcaaggccagttcagg c.*2340
. . . . . . g.91205
agaaagtcccaacccaccagtgcaaccaacaaaagagtaagttttacctacagcctgggt c.*2400
. . . . . . g.91265
tttcacaagtagcatttttattcctcctgctgtctgacatctgagctccaagctctaaac c.*2460
. . . . . . g.91325
ccaacctgtattatatgcagcagcaggttatctttgttttaaatcacatttgttattctg c.*2520
. . . . . . g.91385
tacttagtcacctttccgtgtgatctgcatttgaaatgttgtaaacttggtcagtatttc c.*2580
. . g.91405
cattaaaatatcagggctaa c.*2600
(downstream sequence)
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