(used for variant description)
(last modified October 21, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003042.3 in the SLC6A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053003.1, covering SLC6A1 transcript NM_003042.3.
(upstream sequence)
. . . . . g.5051
gcgaccctccgcccgccctcggaagaccgagacagcggagaggttgcgggt c.-361
. . . . . . g.5111
gagctgcgctgagcccaggagccgaggagtcgggagcgcagtagcgctgagcccgagccc c.-301
. . . . . . g.5171
gagcggccccgcgtcccgagcgcatcggagcggccgagccgcccggatgcagcgcctgtc c.-241
. . . | 02 . . . g.27973
ccgggcagcgcagccccggccgcag | gatctcacccagggtggcagaaggaggccttctgg c.-181
. . . | 03 . . . g.29358
agctgacccacccccgacgaccatcag | ggtgaggcaactccaaggtcctactctctttct c.-121
. . . . . . g.29418
gtgcctgttacccaccccgtcctcctagggtgcccttgagccgcaaaactgctgtccacg c.-61
. . . . . . g.29478
tggaccgggggtgacatcgcacgtccatctgccaggacccctgcgtccaaattccgagac c.-1
. . . . . . g.29538
ATGGCGACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCC c.60
M A T N G S K V A D G Q I S T E V S E A p.20
. . . . . . g.29598
CCTGTGGCCAATGACAAGCCCAAAACCTTGGTGGTCAAGGTGCAGAAGAAGGCGGCAGAC c.120
P V A N D K P K T L V V K V Q K K A A D p.40
. . . . . . g.29658
CTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGACTTCCTCATGTCCTGTGTGGGCTAT c.180
L P D R D T W K G R F D F L M S C V G Y p.60
. . . . . | 04 g.30111
GCCATCGGCCTGGGCAACGTCTGGAGGTTCCCCTATCTCTGCGGGAAAAATGGTGGGG | GA c.240
A I G L G N V W R F P Y L C G K N G G G | p.80
. . . . . . g.30171
GCCTTCCTGATCCCCTATTTCCTGACACTCATCTTTGCGGGGGTCCCACTCTTCCTGCTG c.300
A F L I P Y F L T L I F A G V P L F L L p.100
. . . . . . g.30231
GAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCT c.360
E C S L G Q Y T S I G G L G V W K L A P p.120
. | 05 . . . . . g.30914
ATGTTCAAGG | GCGTGGGCCTTGCGGCTGCTGTGCTATCATTCTGGCTGAACATCTACTAC c.420
M F K G | V G L A A A V L S F W L N I Y Y p.140
. . . . . | 06 . g.32488
ATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACG | ACACTGCCG c.480
I V I I S W A I Y Y L Y N S F T T | T L P p.160
. . . . . . g.32548
TGGAAACAGTGCGACAACCCCTGGAACACAGACCGCTGCTTCTCCAACTACAGCATGGTC c.540
W K Q C D N P W N T D R C F S N Y S M V p.180
. . . . | 07 . . g.34621
AACACTACCAACATGACCAGCGCTGTGGTGGAGTTCTGGGA | GCGCAACATGCATCAGATG c.600
N T T N M T S A V V E F W E | R N M H Q M p.200
. . . . . . g.34681
ACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCACGCTGGCCATC c.660
T D G L D K P G Q I R W P L A I T L A I p.220
. . . . . | 08 . g.37721
GCCTGGATCCTTGTGTATTTCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAG | GTGGTC c.720
A W I L V Y F C I W K G V G W T G K | V V p.240
. . . . . . g.37781
TACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGACG c.780
Y F S A T Y P Y I M L I I L F F R G V T p.260
. . . . . . g.37841
CTGCCCGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCT c.840
L P G A K E G I L F Y I T P N F R K L S p.280
| 09 . . . . . g.38090
GACTCCGAG | GTGTGGCTGGATGCGGCAACCCAGATCTTCTTCTCATACGGGCTGGGCCTG c.900
D S E | V W L D A A T Q I F F S Y G L G L p.300
. . . . . | 10 . g.38508
GGGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAG | GGACTCC c.960
G S L I A L G S Y N S F H N N V Y R | D S p.320
. . . . . . g.38568
ATCATCGTCTGCTGCATCAATTCGTGCACCAGCATGTTCGCAGGATTCGTCATCTTCTCC c.1020
I I V C C I N S C T S M F A G F V I F S p.340
. . . . . | 11 g.41003
ATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCGGCCTCAG | GC c.1080
I V G F M A H V T K R S I A D V A A S G | p.360
. . . . . . g.41063
CCCGGGCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTC c.1140
P G L A F L A Y P E A V T Q L P I S P L p.380
. . . . . | 12 . g.41496
TGGGCCATCCTCTTCTTCTCCATGCTGTTGATGCTGGGCATTGACAGCCAG | TTCTGCACT c.1200
W A I L F F S M L L M L G I D S Q | F C T p.400
. . . . . . g.41556
GTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGA c.1260
V E G F I T A L V D E Y P R L L R N R R p.420
. . . . . . g.41616
GAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACT c.1320
E L F I A A V C I I S Y L I G L S N I T p.440
| 13 . . . . . . g.43500
CAG | GGGGGTATTTATGTCTTCAAACTCTTTGACTACTACTCTGCCAGTGGCATGAGCCTG c.1380
Q | G G I Y V F K L F D Y Y S A S G M S L p.460
. . . . | 14 . . g.45919
CTGTTCCTCGTGTTCTTTGAATGTGTCTCTATTTCCTGGTTTTACG | GTGTCAACCGATTC c.1440
L F L V F F E C V S I S W F Y G | V N R F p.480
. . . . . . g.45979
TATGACAATATCCAAGAGATGGTTGGATCCAGGCCCTGCATCTGGTGGAAACTCTGCTGG c.1500
Y D N I Q E M V G S R P C I W W K L C W p.500
. . | 15. . . . g.46830
TCTTTCTTCACACCAATCATTGTGGCG | GGCGTGTTCATTTTCAGTGCTGTGCAGATGACG c.1560
S F F T P I I V A | G V F I F S A V Q M T p.520
. . . . . . g.46890
CCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATG c.1620
P L T M G N Y V F P K W G Q G V G W L M p.540
. . . . . . g.46950
GCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTCACCTTAAAG c.1680
A L S S M V L I P G Y M A Y M F L T L K p.560
. | 16 . . . . . g.49173
GGCTCCCTGAAGCAG | CGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCA c.1740
G S L K Q | R I Q V M V Q P S E D I V R P p.580
. . . . . . g.49233
GAGAATGGTCCTGAGCAGCCCCAGGCGGGCAGCTCCACCAGCAAGGAGGCCTACATCTAG c.1800
E N G P E Q P Q A G S S T S K E A Y I X p.599
. . . . . . g.49293
ggtgggggccactcaccgacccgacactctcaccccccgacctggctgagtgcgaccacc c.*60
. . . . . . g.49353
acttgatgtctgaggataccttccatctcaacctacctcgagtggcgagtccagacacca c.*120
. . . . . . g.49413
tcaccacgcagagaggggaggtgggaggacagttagacccctgggtgggccctgccgtgg c.*180
. . . . . . g.49473
gcaaggatacccggtggcttctggcacctggcgggctggtgacctttttaatccaggccc c.*240
. . . . . . g.49533
catcagcatcccacgatcggccttggtaaccgccgcggtagatcatttttatcccgccag c.*300
. . . . . . g.49593
ggagtgtgatgcaggaagaccacatgcgctcctggcttttaaacctgttcctgactgttc c.*360
. . . . . . g.49653
tcttactgccgaaacccttgactgttatctcggactttgcaggagttcctttccctccga c.*420
. . . . . . g.49713
acgctgctccatgcacaggaaaagggcattttgtacaatggggacttcccgggaacgctt c.*480
. . . . . . g.49773
gctcttaagtaccagaagccggcggagctctggctttcgtgtttttggttttctccttcc c.*540
. . . . . . g.49833
caaggcagctggattgaaaaaacaaaacaaaacaaaaaaacccaggggcgtcagtcgata c.*600
. . . . . . g.49893
ttcccagggccgcttctcctgcagtctgtggagcgtccttgtccccgccgccggaatgaa c.*660
. . . . . . g.49953
tgagcattctgcagcccgatgtccctgtcccctcctcgccgggccattctgattggacct c.*720
. . . . . . g.50013
ggcccagtgcaatctgtccagacaagccctgcttgctggaaaactgccacaagcacaatt c.*780
. . . . . . g.50073
gatctctttttatcgccattccaggggcctcaggtcctactggggaaacttcctataccg c.*840
. . . . . . g.50133
gagctccagtttctcttaagctgcccaatttcacagagtacaaaatagttgtaggggaaa c.*900
. . . . . . g.50193
tcaaggtgaaggatctgtccgacagtcaagacggatccacagtaatctttcggtctcctt c.*960
. . . . . . g.50253
aaactaccaccctcgctgccacccaccccaagctgctgccgcctcaccttccttgaaatt c.*1020
. . . . . . g.50313
tctcagcgggagtctcctcactgccactaaaatccacccagcccactaactgaggagcta c.*1080
. . . . . . g.50373
gtgttaatccagagaaccccccgcaatgtgcttccgagattcagactgcttcattgggaa c.*1140
. . . . . . g.50433
gtatgatttgttcctttctggaattgggctccgtggtggcggcggcacttcaagcaaaga c.*1200
. . . . . . g.50493
cagtttcttgcaagctccagtagctccgcgtgtctcatttgccaggaagatgggttccca c.*1260
. . . . . . g.50553
cgtagcaaatcgtacattgtgccctgtagctccttagctagttagctcacaagccgtgtt c.*1320
. . . . . . g.50613
ttatgactaatccttaataactatggtaaataactgtgactgtggggtttttaatctctt c.*1380
. . . . . . g.50673
gtcattctcatccaaaagtgaccagcataccagttcttgcaataagatattaccctcaga c.*1440
. . . . . . g.50733
atattaagcacattattgtagagaaaaaaaaatatgtgtacacatatgaacgcacaacat c.*1500
. . . . . . g.50793
gcacattcatcctcacatgtggcacgtaaggtctcatttgatattgtgtaggaaatctga c.*1560
. . . . . . g.50853
agccttttcctgaggtcatctgtaaaatagtctcattgccaaggcatccccagtgccagc c.*1620
. . . . . . g.50913
tggtgaatccatgatcaaaatgcatacgtattgttaaatgataaggtttagaatgacagg c.*1680
. . . . . . g.50973
aacccatcactgtgtctcatggtcccacttccccatctgtgtgtgaattcctttagacta c.*1740
. . . . . . g.51033
agggcaggaagacttccagctttctctttgttcttcaatgtgaaactgagaccaagtctc c.*1800
. . . . . . g.51093
tctaagacaaatgcagtgtatttaatgtttgtaagcaattctaagtgagatgtttggcaa c.*1860
. . . . . . g.51153
gaaatcccctaactgatttccatccaaacctaccttatagagcacaatattaagtgttgt c.*1920
. . . . . . g.51213
acaattactgtgagaactgtgaatatgtgtaacttttttttagtatttgcccggggggaa c.*1980
. . . . . . g.51273
aaagatattgtattatcatatatgcttttttgcaataaggatttattctcagaacaccaa c.*2040
. . . . . . g.51333
gtaaatctatctctatataaaaaatatatgtaatatatacatattcaaagtatatacaga c.*2100
. . . . . . g.51393
gcctgttttaaaaaatacagtattatttagtaaaattatctgttctatggaccaaatgta c.*2160
. . . . . . g.51453
aaatatttataaatgaagatgcattttaaatgtctataaatggtgtcataactagagcac c.*2220
. . . . . . g.51513
gggcgttatgtaagtttctaagaatttagaggataaataataaaggttctatgatataca c.*2280
g.51516
aca c.*2283
(downstream sequence)
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