(used for variant description)
(last modified January 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_015330.3 in the SPECC1L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031915.1, covering SPECC1L transcript NM_015330.3.
(upstream sequence)
g.5003
aag c.-301
. . . . . . g.5063
ggcggggcccgcgagggaggccgggcggcccggcaagcggcgctgcggggtaggctgctt c.-241
. . . . . . g.5123
tcctgaggccggactcaacgggtctcggctgagccaccgggtgagctcaccgcccagccc c.-181
. . . . | 02 . g.10899
aaaccaggagattgcgagggagcgatgcggtgcagcgcg | tgttcttggggaagatcccga c.-121
. . . . . . g.10959
ctaagccattttccagtggcacctcttccatcatgagttcctgaggcagtccgatggggc c.-61
. . . | 03 . . . g.36410
tactttattccagaacaatcaca | atttgcttgtaaatgcatcacgaagaggcagcccaga c.-1
. . . . . . g.36470
ATGAAGAAAGCAAGCAGGAGTGTTGGCTCAGTGCCTAAAGTGTCTGCAATAAGTAAAACG c.60
M K K A S R S V G S V P K V S A I S K T p.20
. . . . . . g.36530
CAAACAGCAGAAAAAATTAAACCTGAAAACAGCTCTTCAGCATCTACGGGAGGCAAACTT c.120
Q T A E K I K P E N S S S A S T G G K L p.40
. . . | 04 . . . g.47518
GTAAAACCTGGAACAGCAGCATCATTGTCAAAG | ACCAAGAGCAGTGATGACCTTTTAGCT c.180
V K P G T A A S L S K | T K S S D D L L A p.60
. . . . . . g.47578
GGAATGGCCGGAGGGGTAACGGTGACTAATGGTGTTAAAGGAAAGAAAAGCACCTGCCCA c.240
G M A G G V T V T N G V K G K K S T C P p.80
. . . . . . g.47638
TCTGCAGCACCTTCAGCATCTGCCCCTGCCATGACCACCGTGGAGAACAAATCCAAGATT c.300
S A A P S A S A P A M T T V E N K S K I p.100
| 05. . . . . . g.55519
AGCACAG | GCACAGCTTCTTCAACCAAGCGGAGCACTTCTACAGGTAATAAAGAATCCAGT c.360
S T G | T A S S T K R S T S T G N K E S S p.120
. . . . . . g.55579
TCTACTAGAGAAAGATTACGTGAACGTACCCGATTAAACCAGAGCAAAAAACTACCTTCT c.420
S T R E R L R E R T R L N Q S K K L P S p.140
. . . . . . g.55639
GCAGGTCAGGGAGCTAATGACATGGCATTGGCCAAACGTTCCCGCAGTCGAACTGCTACA c.480
A G Q G A N D M A L A K R S R S R T A T p.160
. . . . . . g.55699
GAATGTGACGTTCGTATGAGCAAGTCTAAGTCAGACAATCAGATCAGTGACAGAGCTGCT c.540
E C D V R M S K S K S D N Q I S D R A A p.180
. . . . . . g.55759
TTGGAGGCCAAAGTGAAGGATCTTCTCACGCTGGCAAAAACCAAAGACGTAGAAATTTTA c.600
L E A K V K D L L T L A K T K D V E I L p.200
. . . . . . g.55819
CATTTGAGAAATGAACTGCGAGACATGCGTGCCCAGCTGGGCATTAATGAGGATCATTCT c.660
H L R N E L R D M R A Q L G I N E D H S p.220
. . . . . . g.55879
GAGGGTGATGAAAAATCTGAGAAGGAAACTATTATGGCTCACCAGCCGACTGATGTGGAG c.720
E G D E K S E K E T I M A H Q P T D V E p.240
. . . . . . g.55939
TCCACTTTATTGCAGTTGCAGGAACAGAATACTGCCATCCGTGAAGAACTCAACCAGCTG c.780
S T L L Q L Q E Q N T A I R E E L N Q L p.260
. . . . . . g.55999
AAAAATGAAAACAGAATGTTAAAGGACAGGTTGAATGCATTGGGCTTTTCCCTAGAGCAG c.840
K N E N R M L K D R L N A L G F S L E Q p.280
. . . . . . g.56059
AGGTTAGACAATTCTGAAAAACTGTTTGGCTATCAGTCCCTGAGCCCAGAAATCACCCCT c.900
R L D N S E K L F G Y Q S L S P E I T P p.300
. . . . . . g.56119
GATAACCAGAGCGATGGAGGAGGAACTCTGACTTCTTCAGTGGAAGGCTCTGCCCCTGGC c.960
D N Q S D G G G T L T S S V E G S A P G p.320
. . . . . . g.56179
TCAGTGGAGGATCTCTTGAGTCAGGATGAAAATACACTAATGGACCATCAGCACAGTAAC c.1020
S V E D L L S Q D E N T L M D H Q H S N p.340
. . . . . . g.56239
TCCATGGACAATTTAGACAGTGAGTGCAGTGAGGTCTACCAGCCCCTCACATCGAGCGAT c.1080
S M D N L D S E C S E V Y Q P L T S S D p.360
. . . . . . g.56299
GATGCGCTGGATGCACCATCCTCCTCAGAGTCGGAAGGCATCCCCAGCATAGAGCGCTCC c.1140
D A L D A P S S S E S E G I P S I E R S p.380
. . . . . . g.56359
CGGAAGGGGAGCAGCGGGAATGCCAGTGAAGTGTCCGTGGCTTGCCTGACTGAACGGATA c.1200
R K G S S G N A S E V S V A C L T E R I p.400
. . . . . . g.56419
CACCAGATGGAAGAGAACCAACACAGTACAAGTGAGGAACTCCAGGCAACCCTGCAAGAG c.1260
H Q M E E N Q H S T S E E L Q A T L Q E p.420
. . . . . . g.56479
CTAGCTGATTTACAGCAGATTACCCAGGAACTGAATAGTGAAAACGAAAGGCTTGGAGAA c.1320
L A D L Q Q I T Q E L N S E N E R L G E p.440
. . . . . . g.56539
GAGAAGGTTATTCTGATGGAGTCTTTATGTCAGCAGAGCGATAAGTTGGAACACTTTAGT c.1380
E K V I L M E S L C Q Q S D K L E H F S p.460
. . . . . . g.56599
CGACAGATTGAATACTTCCGCTCTCTTCTAGATGAGCATCACATTTCTTATGTCATAGAT c.1440
R Q I E Y F R S L L D E H H I S Y V I D p.480
. . . . . . g.56659
GAAGATGTAAAAAGTGGGCGCTATATGGAATTAGAGCAACGTTACATGGACCTCGCTGAG c.1500
E D V K S G R Y M E L E Q R Y M D L A E p.500
. . . . . . g.56719
AATGCCCGTTTTGAACGGGAGCAGCTTCTTGGTGTCCAGCAGCATTTAAGCAATACTTTG c.1560
N A R F E R E Q L L G V Q Q H L S N T L p.520
. . . . . . g.56779
AAAATGGCAGAACAAGACAATAAGGAAGCTCAAGAAATGATAGGGGCACTCAAAGAACGC c.1620
K M A E Q D N K E A Q E M I G A L K E R p.540
. . . . . . g.56839
AGTCACCATATGGAGCGAATTATTGAGTCTGAGCAGAAAGGAAAAGCAGCCTTGGCAGCC c.1680
S H H M E R I I E S E Q K G K A A L A A p.560
. . . . . . g.56899
ACGTTAGAGGAATACAAAGCCACAGTGGCCAGTGACCAGATAGAGATGAATCGCCTGAAG c.1740
T L E E Y K A T V A S D Q I E M N R L K p.580
. . . . . . g.56959
GCTCAGCTGGAGAATGAAAAGCAGAAAGTGGCAGAGCTGTATTCTATCCATAACTCTGGA c.1800
A Q L E N E K Q K V A E L Y S I H N S G p.600
. . . . . . g.57019
GACAAATCTGATATTCAGGACCTCCTGGAGAGTGTCAGGCTGGACAAAGAAAAAGCAGAG c.1860
D K S D I Q D L L E S V R L D K E K A E p.620
. . . . . . g.57079
ACTTTGGCTAGTAGCTTGCAGGAAGATCTGGCTCATACCCGAAATGATGCCAATCGATTA c.1920
T L A S S L Q E D L A H T R N D A N R L p.640
. | 06 . . . . g.58440
CAGGATGCCATTGCTAAG | GTAGAGGATGAATACCGAGCCTTCCAAGAAGAAGCTAAGAAA c.1980
Q D A I A K | V E D E Y R A F Q E E A K K p.660
. . . . . . g.58500
CAAATTGAAGATTTGAATATGACGTTAGAAAAATTAAGATCAGACCTGGATGAAAAAGAA c.2040
Q I E D L N M T L E K L R S D L D E K E p.680
. . . . . . g.58560
ACAGAAAGGAGTGACATGAAAGAAACCATCTTTGAACTTGAAGATGAAGTAGAACAACAT c.2100
T E R S D M K E T I F E L E D E V E Q H p.700
. . . . | 07 . . g.63038
CGTGCTGTGAAACTTCATGACAACCTCATTATTTCTGATCTAGAGA | ATACAGTTAAAAAA c.2160
R A V K L H D N L I I S D L E N | T V K K p.720
. . . . . . g.63098
CTCCAGGACCAAAAGCACGACATGGAAAGAGAAATAAAGACACTCCACAGAAGACTTCGG c.2220
L Q D Q K H D M E R E I K T L H R R L R p.740
| 08 . . . . . . g.64494
| GAAGAATCTGCGGAATGGCGGCAGTTTCAGGCTGATCTCCAGACTGCAGTAGTCATTGCA c.2280
| E E S A E W R Q F Q A D L Q T A V V I A p.760
. . . . . . g.64554
AATGACATTAAATCTGAAGCCCAAGAGGAGATTGGTGATCTAAAGCGCCGGTTACATGAG c.2340
N D I K S E A Q E E I G D L K R R L H E p.780
. . . . . | 09 . g.68592
GCTCAAGAAAAAAATGAGAAACTCACAAAAGAATTGGAGGAAATAAAGTCACGCAA | GCAA c.2400
A Q E K N E K L T K E L E E I K S R K | Q p.800
. . . . . . g.68652
GAGGAGGAGCGAGGCCGGGTATACAATTACATGAATGCCGTTGAGAGAGATTTGGCAGCC c.2460
E E E R G R V Y N Y M N A V E R D L A A p.820
. . . . . . g.68712
TTAAGGCAGGGAATGGGACTGAGTAGAAGGTCCTCGACTTCCTCAGAGCCAACTCCTACA c.2520
L R Q G M G L S R R S S T S S E P T P T p.840
. . . . | 10 . . g.72584
GTAAAAACCCTCATCAAGTCCTTTGACAGTGCATCTCAAG | TACCAAACCCTGCTGCAGCT c.2580
V K T L I K S F D S A S Q V | P N P A A A p.860
. . . . . . g.72644
GCAATTCCTCGAACGCCCCTGAGCCCAAGTCCTATGAAAACCCCTCCTGCAGCAGCTGTG c.2640
A I P R T P L S P S P M K T P P A A A V p.880
. | 11 . . . . . g.81312
TCCCCTATGCAG | AGACATTCCATAAGTGGACCAATCTCAACATCCAAACCCCTGACAGCC c.2700
S P M Q | R H S I S G P I S T S K P L T A p.900
. . . . | 12 . . g.97456
CTGTCAGATAAGAGACCAAACTATGGGGAAATCCCTGTTCAAG | AGCATCTGTTAAGAACA c.2760
L S D K R P N Y G E I P V Q E | H L L R T p.920
. . . . . . g.97516
TCTTCAGCCAGCCGGCCTGCTTCCCTGCCAAGAGTGCCTGCGATGGAAAGTGCCAAGACC c.2820
S S A S R P A S L P R V P A M E S A K T p.940
| 13. . . . . . g.99707
CTCTCAG | TGTCTCGACGAAGTAGTGAAGAAATGAAACGGGACATTTCTGCACAGGAGGGA c.2880
L S V | S R R S S E E M K R D I S A Q E G p.960
. . . . . . g.99767
GCGTCGCCAGCCTCTCTGATGGCTATGGGAACCACGTCTCCACAGCTTTCCCTGTCCTCT c.2940
A S P A S L M A M G T T S P Q L S L S S p.980
. . . . | 14 . . g.103412
TCTCCAACGGCATCTGTGACTCCCACCACCCGAAGCCGAATAAG | AGAAGAAAGGAAAGAC c.3000
S P T A S V T P T T R S R I R | E E R K D p.1000
. . . . . . g.103472
CCTCTCTCAGCATTGGCCAGAGAATATGGAGGATCAAAGAGGAACGCCTTGCTGAAGTGG c.3060
P L S A L A R E Y G G S K R N A L L K W p.1020
. . | 15. . . . g.145799
TGTCAGAAGAAAACAGAAGGCTATCAG | AATATTGACATTACAAACTTCAGCAGCAGCTGG c.3120
C Q K K T E G Y Q | N I D I T N F S S S W p.1040
. . . . . . g.145859
AATGATGGGCTGGCCTTCTGTGCCCTCCTGCATACATATCTCCCTGCCCACATTCCATAT c.3180
N D G L A F C A L L H T Y L P A H I P Y p.1060
. . | 16 . . . . g.146862
CAAGAACTGAACAGCCAGGATAAG | AGAAGGAACTTCATGCTGGCTTTCCAGGCAGCTGAA c.3240
Q E L N S Q D K | R R N F M L A F Q A A E p.1080
. . | 17 . . . . g.148748
AGTGTCGGCATCAAATCCACACTG | GACATTAATGAAATGGTACGGACTGAACGACCCGAC c.3300
S V G I K S T L | D I N E M V R T E R P D p.1100
. . . . . g.148802
TGGCAGAACGTGATGCTGTATGTGACGGCGATCTACAAGTACTTTGAGACCTGA c.3354
W Q N V M L Y V T A I Y K Y F E T X p.1117
. . . . . . g.148862
gcatgccgggaggagccgccccaatagcgggggtacccctccacagcgaccgagcgacac c.*60
. . . . . . g.148922
cgacgccattagctacgcacccctgtaaagcttccagcaactctgggctgccccacagcg c.*120
. . . . . . g.148982
tgtgagcctccagctcggggcttccgtattggaagaactcagccgtgtggcccacagctc c.*180
. . . . . . g.149042
ccaccagggcccctcccacatgacccgtccattcaggtcatgtgggctcagcacacatcc c.*240
. . . . . . g.149102
tgcaggccggtggctgctggagttttccttctgaagagaatattgaactacactagtgct c.*300
. . . . . . g.149162
ccagggcaccaaacaaaaagggctcatgcacagctgaatttgggaaaagggattcagttc c.*360
. . . . . . g.149222
tgtgggaaactcactagggttgatgaaggctcggccgcggcacttcctgactattggctg c.*420
. . . . . . g.149282
gggtgggttccggtgctggtgagaacccagaaggagagtcagcgcctggcagttcccagc c.*480
. . . . . . g.149342
gccctgggcccttcaccgtcctagtttggaggagcatgttcaccacagacgtgggtcagc c.*540
. . . . . . g.149402
tgccccacacctgacggggctgtcccggccgacacaatccaggcgtgttcagcctgagct c.*600
. . . . . . g.149462
aggagagtatctagagggcgtggtgcgggcacgccagggctggggtgctgctgctgcact c.*660
. . . . . . g.149522
cacgcggctgggctttctggcgggaagcagttacgggggccccttgcctggactcagcga c.*720
. . . . . . g.149582
cctgtcttccagcctggaaggggtttggagtcccagctctggctttagatttcttcatca c.*780
. . . . . . g.149642
taaggagtttttctagttaacatttttgttttgttacgagcaatgctggaaaaggtcgct c.*840
. . . . . . g.149702
cctgttctgttagtaccaaagttacattgtttcaataagcatagaaatctaaacaacatc c.*900
. . . . . . g.149762
tgtacattagcatggtgagagcaaggaataaagcaggaaataggagaaaagtaaacaact c.*960
. . . . . . g.149822
ttagggagcccaggcagtgtcatttaaactcactgagtcactaagacataattctcctag c.*1020
. . . . . . g.149882
gccagagttaaagaaagtgccttaactcttcttgtgagggcagccactgccctccgtggc c.*1080
. . . . . . g.149942
caaggcaggacctccaagactcagtggttgagttgtctcctaccaccatgcccgccctcc c.*1140
. . . . . . g.150002
ccaggtactgggtccatgccccctgtgcccaccctccccaggtgctgggtccatgctgtt c.*1200
. . . . . . g.150062
tgaaccaaagccttatttaaaggtggtcactggagatgctctcaggccagaactcaacag c.*1260
. . . . . . g.150122
ctatttttgggaatagggatctcccgtgtgcctaacgcagtagctattggtttgaacaat c.*1320
. . . . . . g.150182
gtccagacaagacctgtacctttgagaatataactgtgtttggcacctgcatagcaccat c.*1380
. . . . . . g.150242
gaggaagaccagccaccagtggaagcggggtcactgccccacagactggatgcaatgagg c.*1440
. . . . . . g.150302
ggctcacaggaggcccagccagcccgattgtgggctgaggggtctgcattcaagcacgat c.*1500
. . . . . . g.150362
gttctagaataggagtttaacgtgtctacgtaacctagaatgtggttattaggaaagggg c.*1560
. . . . . . g.150422
ctgtgcatgtgggtgcagctggcggcacacctggtcaccagatggccagaagctgcccat c.*1620
. . . . . . g.150482
cagccctgcccagatgtcagcctgggagctcaggctgctgccgctggctggatgcccttt c.*1680
. . . . . . g.150542
ggtgaaatgcctgttttcagctaagaaaggagaggccaggcaagcaaagtcatgccacaa c.*1740
. . . . . . g.150602
agcatatcagagacccccgcagactcctggccccgtcccgccccctgtctgagttgtgtt c.*1800
. . . . . . g.150662
tttgttgctgttcctctgttgatggccagctctgctgttggcatgagccactgatgttca c.*1860
. . . . . . g.150722
tgtgagaattactgtttttaagtgtctctccacttaggtgtcctcagttcccacttttgc c.*1920
. . . . . . g.150782
tctcatttgccttcacagaggccactccacctgtccggatccagctgtctggtcatggtt c.*1980
. . . . . . g.150842
tggtttatttattttgtccttcaggggctgttttgccctaagaatgagggggcttcccct c.*2040
. . . . . . g.150902
ggtctgcagttcccaactttatcccttgctggccatgcgagcccagccctggtgcctcat c.*2100
. . . . . . g.150962
gggatgggggggtaggggtccccaggatcttctggaggaaggtggccatggatggatggg c.*2160
. . . . . . g.151022
ctgtatctgtgttttccctctgggagtctcatgggtccagcatcaggcctgaggtcagca c.*2220
. . . . . . g.151082
acagggaaagagggtgggcacggggagggcttggccccgcctatctagaggcttgcctcg c.*2280
. . . . . . g.151142
ggcccctccttggggaaggtttgcgtgcagagctgcaagggagagggttccagaagcatt c.*2340
. . . . . . g.151202
gccttttgcctcgtctaataggatccttaggacactgtgggctttaggaatgactataga c.*2400
. . . . . . g.151262
tgctcacacgtgtttaaagtgacatttggagatgctctcagtcctgtggcatctggcacg c.*2460
. . . . . . g.151322
aagtctccaagaagccactttgcctcttctcccttcaagcacaagctttactgcaaaagg c.*2520
. . . . . . g.151382
gccagtcgcgtttctatttctctcgatcccaggcttctgcggaccgacgatacgtttaaa c.*2580
. . . . . . g.151442
tgttgttctagtaaatattcttgaatgtattaaaatggctgaaacaacaagcttgggctt c.*2640
. . . . . . g.151502
ttctagcttgccctccactccctgccgtccctctgacgtcgcataaaccagaacccagct c.*2700
. . . . . . g.151562
ccctcctgggactggctgtggagagaagggcacctctgagccagcctgtggccctacccc c.*2760
. . . . . . g.151622
aaggcgcacttcctcatgtgggcagatcctgaccaggagtccagggtggcctcccctggg c.*2820
. . . . . . g.151682
ccacagcacatcaccgtgtggcctggggctgtgggacagtgagccctgtaaccactaggg c.*2880
. . . . . . g.151742
ttctgtgacagatgccaagaccccagagaccgtggcagagctacccccaggagagcggaa c.*2940
. . . . . . g.151802
gcccctacacagcccagacacatgccttccctgggggctggggagtgtgtctcgaggggt c.*3000
. . . . . . g.151862
tttgtttgttttgaggcatgtatcatcttggaaataattgtcaggatgtataaaatagag c.*3060
. . . . . g.151919
aaaaagaaaaaaggtatcctacccagaggcaaccagataaacttttttgcctgtgca c.*3117
(downstream sequence)
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