(used for variant description)
(last modified October 14, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_152713.4 in the STT3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering STT3A transcript NM_152713.4.
(upstream sequence)
. . . g.4990
attggcctggagccagccaacgggggagcggtccgggag c.-121
. . . . . . g.5050
gcggacccggctcctgccagggttgggtgcgccgctgaacggatggctgagggagccccg c.-61
. . . | 02 . . . g.8072
cggatcgtttaggaaagccggccag | ctgatcgtcgtgtgttgccacccattcatgtcaag c.-1
. . . . . . g.8132
ATGACTAAGTTTGGATTTTTGCGATTGTCCTATGAGAAGCAGGACACACTTTTGAAGCTT c.60
M T K F G F L R L S Y E K Q D T L L K L p.20
. . | 03 . . . g.9247
CTCATTCTGTCAATGGCTGCTGTATTAT | CCTTCTCCACTCGTCTGTTTGCTGTCCTGAGA c.120
L I L S M A A V L S | F S T R L F A V L R p.40
. . | 04 . . . g.14490
TTTGAAAGTGTTATCCATGAGTTTGATCC | GTACTTTAATTATCGGACTACCAGGTTCCTG c.180
F E S V I H E F D P | Y F N Y R T T R F L p.60
. . . . . . g.14550
GCTGAGGAGGGGTTTTATAAATTCCATAACTGGTTTGATGACCGAGCCTGGTACCCTTTG c.240
A E E G F Y K F H N W F D D R A W Y P L p.80
. . . | 05 . . . g.14988
GGACGAATCATTGGAGGAACAATTTACCCAG | GTTTAATGATCACCTCTGCTGCAATCTAC c.300
G R I I G G T I Y P G | L M I T S A A I Y p.100
. . . . . . g.15048
CATGTACTCCATTTTTTCCACATCACCATCGACATTCGGAATGTCTGTGTGTTCCTGGCC c.360
H V L H F F H I T I D I R N V C V F L A p.120
. . . . . | 06. g.16316
CCTCTCTTCTCCTCCTTCACCACCATCGTCACGTACCACCTTACCAAAGAGCTCAAG | GAT c.420
P L F S S F T T I V T Y H L T K E L K | D p.140
. . . . . . g.16376
GCAGGGGCTGGGCTTCTTGCTGCTGCCATGATTGCTGTAGTTCCTGGATATATCTCCCGA c.480
A G A G L L A A A M I A V V P G Y I S R p.160
. . | 07 . . . g.17817
TCTGTGGCTGGCTCCTATGATAATGAAG | GGATTGCCATCTTTTGCATGCTACTCACCTAC c.540
S V A G S Y D N E G | I A I F C M L L T Y p.180
. . . . . . g.17877
TACATGTGGATCAAGGCAGTAAAGACTGGTTCCATCTGTTGGGCAGCTAAGTGTGCCCTT c.600
Y M W I K A V K T G S I C W A A K C A L p.200
. | 08 . . . . . g.18502
GCTTATTTCTACATG | GTCTCGTCATGGGGAGGTTATGTGTTCCTGATCAACTTAATTCCT c.660
A Y F Y M | V S S W G G Y V F L I N L I P p.220
. . . . . . g.18562
CTCCACGTCCTCGTGCTGATGCTCACAGGCCGTTTCTCTCACCGGATCTATGTGGCCTAC c.720
L H V L V L M L T G R F S H R I Y V A Y p.240
. . . . . . g.18622
TGTACTGTTTACTGCCTGGGCACTATACTTTCTATGCAGATCTCCTTTGTGGGTTTCCAG c.780
C T V Y C L G T I L S M Q I S F V G F Q p.260
| 09 . . . . . . g.20325
| CCTGTCCTTTCATCAGAGCACATGGCAGCCTTTGGGGTCTTTGGTCTCTGCCAGATCCAT c.840
| P V L S S E H M A A F G V F G L C Q I H p.280
. . . . . . g.20385
GCCTTTGTGGATTACCTGCGCAGCAAGTTGAATCCACAACAATTTGAAGTTCTTTTCCGG c.900
A F V D Y L R S K L N P Q Q F E V L F R p.300
. . . . . . g.20445
AGCGTCATCTCTCTGGTAGGCTTTGTCCTTCTCACCGTGGGAGCTCTCCTCATGCTGACA c.960
S V I S L V G F V L L T V G A L L M L T p.320
| 10 . . . . . . g.21649
G | GAAAAATATCTCCCTGGACGGGGCGTTTCTACTCGCTGCTGGATCCCTCTTATGCTAAG c.1020
G | K I S P W T G R F Y S L L D P S Y A K p.340
. . . . . . g.21709
AACAACATCCCCATCATTGCTTCTGTGTCTGAGCATCAGCCCACAACCTGGTCCTCATAC c.1080
N N I P I I A S V S E H Q P T T W S S Y p.360
. . . | 11. . . g.23607
TATTTTGACCTGCAGCTCCTCGTCTTCATGTTTCCAG | TTGGCCTCTATTACTGCTTTAGC c.1140
Y F D L Q L L V F M F P V | G L Y Y C F S p.380
. . . . . . g.23667
AACCTGTCTGATGCCCGGATTTTTATCATCATGTATGGTGTGACCAGCATGTACTTTTCA c.1200
N L S D A R I F I I M Y G V T S M Y F S p.400
| 12 . . . . . g.24799
GCTGTAATG | GTGCGTCTAATGCTAGTGTTGGCACCTGTTATGTGCATTCTCTCTGGCATT c.1260
A V M | V R L M L V L A P V M C I L S G I p.420
. . . . . . g.24859
GGAGTCTCCCAGGTGCTGTCCACATACATGAAGAATCTGGACATAAGTCGTCCAGACAAG c.1320
G V S Q V L S T Y M K N L D I S R P D K p.440
. . . . | 13 . . g.25160
AAGAGCAAGAAGCAACAGGATTCCACCTACCCTATTAAGAATGAA | GTGGCAAGTGGGATG c.1380
K S K K Q Q D S T Y P I K N E | V A S G M p.460
. . . . . . g.25220
ATACTGGTCATGGCTTTCTTTCTCATCACCTACACCTTTCATTCAACCTGGGTGACCAGT c.1440
I L V M A F F L I T Y T F H S T W V T S p.480
. . . . . . g.25280
GAGGCCTACTCTTCTCCGTCCATTGTACTATCTGCCCGTGGTGGGGATGGCAGTAGGATC c.1500
E A Y S S P S I V L S A R G G D G S R I p.500
. . . . . | 14 . g.26249
ATATTTGATGACTTCCGAGAAGCATATTATTGGCTTCGTCATAATACTCCAGAG | GATGCG c.1560
I F D D F R E A Y Y W L R H N T P E | D A p.520
. . . . . . g.26309
AAGGTCATGTCCTGGTGGGATTATGGCTATCAGATTACAGCTATGGCAAACCGAACAATT c.1620
K V M S W W D Y G Y Q I T A M A N R T I p.540
. . . . . | 15 . g.26489
TTAGTGGACAATAACACATGGAATAATACCCATATTTCTCGAGTAGGGCAG | GCAATGGCG c.1680
L V D N N T W N N T H I S R V G Q | A M A p.560
. . . . . . g.26549
TCCACAGAGGAAAAAGCCTATGAGATCATGAGGGAGCTCGATGTCAGCTATGTGCTGGTC c.1740
S T E E K A Y E I M R E L D V S Y V L V p.580
. . . | 16 . . . g.30555
ATTTTTGGAGGCCTCACTGGGTATTCCTCTGATG | ATATCAACAAGTTTCTTTGGATGGTC c.1800
I F G G L T G Y S S D D | I N K F L W M V p.600
. . . . . . g.30615
CGGATTGGAGGGAGCACAGATACAGGCAAACATATCAAGGAGAATGACTATTATACTCCA c.1860
R I G G S T D T G K H I K E N D Y Y T P p.620
. . . . . . g.30675
ACTGGGGAGTTCCGTGTGGACCGTGAAGGTTCTCCAGTGCTGCTCAACTGCCTCATGTAC c.1920
T G E F R V D R E G S P V L L N C L M Y p.640
. . . . | 17 . . g.32184
AAGATGTGTTACTATCGCTTTGGACAGGTTTACACAGAAGCCA | AGCGTCCTCCAGGCTTT c.1980
K M C Y Y R F G Q V Y T E A K | R P P G F p.660
. . . . . . g.32244
GACCGTGTCCGAAATGCTGAGATTGGGAATAAAGACTTTGAGCTTGATGTCCTGGAGGAA c.2040
D R V R N A E I G N K D F E L D V L E E p.680
. . . | 18 . . g.32949
GCATATACCACAGAACATTGGCTGGTCAGGATATACAAG | GTAAAGGACCTGGATAATCGA c.2100
A Y T T E H W L V R I Y K | V K D L D N R p.700
. g.32967
GGCTTGTCAAGGACATAA c.2118
G L S R T X p.705
. . . . . . g.33027
atgtcacgtccagctctgatatgcttcgcactgagcacatcacatttaggacgttgaaga c.*60
. . . . . . g.33087
tttttttttttttttttttttaatatgcagtttgtaagaacaaaactggatggcatcaga c.*120
. . . . . . g.33147
attgtctggaagttttgtcttgggcagtatgggctgggccaaatgaaatgatttttataa c.*180
. . . . . . g.33207
ttctaaacaggttaccaaatgaaatgtcatggctttactttggtcaattaaaggggggaa c.*240
. . . . . . g.33267
tttttttaaaaaatgtgccttatttgttttgacttataactgatttgagggaggcaaaag c.*300
. . . . . . g.33327
ctatgctaggctgccagaaggacataagcagaccttgtccattctcttagctccctaaat c.*360
. . . . . . g.33387
tagccaaatagagacttctttctcaaatcaggaaaactatcaaagaccaattcagatcct c.*420
. . . . . . g.33447
acatttacagacagttttgtcataaccctttgcattgcagcacctagtacaattccttgg c.*480
. . . . . . g.33507
aaacagcgtggctcaataaatttttattgaatgaataaatgtgggaccagaagagtgcta c.*540
. . . . . . g.33567
gaagagtgcctttctgggctactatgtctctgttctcaatgtcttttatccttagacgct c.*600
. . . . . . g.33627
ctttgactttataaatcagcagttttgaagactcaagacaaacagtgaaattattggttt c.*660
. . . . . . g.33687
atcaatggagaggaagaaactcttccagcattacatatagagcttgatggtcagtaggtg c.*720
. . . . . . g.33747
tttttgaatcagcttaaatataatcatacatatcaatttgaaatggagcttttcagtact c.*780
. . . . . . g.33807
ctcacttattcatgacacaggaatgaccctttactcaaaactcttgtggttgttcaaagg c.*840
. . . . . . g.33867
tgagcttctttttcccttagtcttagcctatgtgttgctgttgtatattgttaccaagtt c.*900
. . . . . . g.33927
caactacctaattttgaagctctttccaaataagatacaaattaaaaggggaagcattgc c.*960
. . . . . . g.33987
cagtaacaggtccctagagagcagtgccagcctgcctgcaagaaaagaggagaaacttct c.*1020
. . . . . . g.34047
taaaaagttttaagcctgggcaacataaggagattgtttctatgaaaaataaaaattagc c.*1080
. . . . . . g.34107
caggtatggtggtgtacacctgtagtcccagctactcgggaagatgagattggaggatca c.*1140
. . . . . . g.34167
cttgggcctgggaggttgaggctacagtgaactgtgattgtgccactgtactccagtctg c.*1200
. . . . . . g.34227
ggcgacagtgaaatcttgtctaaacaaaaacaatttaactgggaagcacagtggtccttg c.*1260
. . . . . . g.34287
aggacatttaatatcaggacaaagagcctatgaatatatcactgatgtatataaacccta c.*1320
. . . . . . g.34347
aggcgttaataaaagctaactgtttagtgttatccatttaagggaacaggaggaattgca c.*1380
. . . . . . g.34407
taacttttagattagtcatagtggtgctcctaagggatatgctgttgtatatttgtatag c.*1440
. . . . . . g.34467
ccagggcacttagccttccaaaccaatttatataccatgttcttcaactgtgggtgagat c.*1500
. . . . . . g.34527
ttagcctcaagatttgatttactatatgtaagtacattacttgatttctataaagaatct c.*1560
. . . . . . g.34587
ttagtggaagaggttattctgaattatttatcaatatgattaataccagttagaaattat c.*1620
. . . . . . g.34647
taatgatcttcctttatactatacataggataacttttaacttgtcgctacagttgttgc c.*1680
. . . . . . g.34707
tctgaggatcttaattttgttactttctaggctacatgaagctatctttttaaaaagtgt c.*1740
. . . . . . g.34767
actcttcattttcactgttattgtgtacttagcataaaaaactcaaatctaggccaggtg c.*1800
. . . . . . g.34827
cagtggctcatgcctgtaatcccagcactttgggaggctgaagcatgcggatcacttgag c.*1860
. . . . . . g.34887
cccaggagttcaagaccagcctgggcaacatggctaatgaacactaagcatagttttgat c.*1920
. . g.34916
gtctttcatattaaagactttctcaaatt c.*1949
(downstream sequence)
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