(used for variant description)
(last modified April 12, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000338.2 in the SLC12A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering SLC12A1 transcript NM_000338.2.
(upstream sequence)
. . . | 02 g.6239
tacatttcctcagaagaaggctccttggtg | ctttga c.-181
. . . . . . g.6299
agaacatcctgaagattatatcggagacaatatatcaagaatctatttattgaatcatct c.-121
. . . . . . g.6359
agaacaaaagccaggagctccctaatggaagcacattagtgtttattttgatgaagaaat c.-61
. . . . . . g.6419
atatagattttttaaaacaaccacaaagtagatagctcagtaaaaaatcaattttggaag c.-1
. . . . . . g.6479
ATGTCACTGAACAACTCTTCCAATGTATTTCTGGATTCAGTGCCCAGTAATACCAATCGC c.60
M S L N N S S N V F L D S V P S N T N R p.20
. . . . . . g.6539
TTTCAAGTTAGTGTCATAAATGAGAACCATGAGAGCAGTGCAGCTGCAGATGACAATACT c.120
F Q V S V I N E N H E S S A A A D D N T p.40
. . . . . . g.6599
GACCCACCACATTATGAAGAAACCTCTTTTGGGGATGAAGCTCAGAAAAGACTCAGAATC c.180
D P P H Y E E T S F G D E A Q K R L R I p.60
. . . . . . g.6659
AGCTTTAGGCCTGGGAATCAGGAGTGCTATGACAATTTCCTCCAAAGTGGAGAAACTGCT c.240
S F R P G N Q E C Y D N F L Q S G E T A p.80
. . . . . . g.6719
AAAACAGATGCCAGTTTTCACGCTTATGATTCTCACACAAACACATACTATCTACAAACT c.300
K T D A S F H A Y D S H T N T Y Y L Q T p.100
. . . . . . g.6779
TTTGGCCACAACACCATGGATGCCGTTCCCAAGATAGAGTACTATCGTAACACCGGCAGC c.360
F G H N T M D A V P K I E Y Y R N T G S p.120
. . . . . . g.6839
ATCAGTGGGCCCAAGGTCAACCGACCCAGCCTGCTTGAGATTCACGAGCAACTCGCAAAG c.420
I S G P K V N R P S L L E I H E Q L A K p.140
| 03 . . . . . . g.19393
| AATGTGGCAGTCACCCCAAGTTCAGCTGACAGAGTTGCTAACGGTGATGGGATACCTGGA c.480
| N V A V T P S S A D R V A N G D G I P G p.160
. . . . . . g.19453
GATGAACAAGCTGAAAATAAGGAAGATGATCAAGCTGGTGTTGTGAAGTTTGGATGGGTG c.540
D E Q A E N K E D D Q A G V V K F G W V p.180
. | 04 . . . . . g.19668
AAAGGTGTGCTG | GTAAGATGCATGCTGAACATCTGGGGAGTCATGCTCTTCATTCGCCTC c.600
K G V L | V R C M L N I W G V M L F I R L p.200
. . | 05 . . . g.25207
TCCTGGATTGTTGGAGAAGCTGGAATTG | GTCTTGGAGTTCTCATAATTCTTCTTTCCACC c.660
S W I V G E A G I G | L G V L I I L L S T p.220
. . . . . . g.25267
ATGGTAACTTCTATTACTGGGTTGTCAACTTCTGCGATAGCAACTAACGGGTTTGTTCGT c.720
M V T S I T G L S T S A I A T N G F V R p.240
| 06 . . . . . . g.27944
GGAG | GTGGGGCCTACTATCTTATTTCCAGAAGTTTAGGGCCCGAGTTCGGTGGGTCAATA c.780
G G | G A Y Y L I S R S L G P E F G G S I p.260
. . . . . . g.28004
GGCCTGATCTTTGCTTTTGCTAATGCAGTGGCTGTTGCTATGTATGTGGTGGGATTTGCT c.840
G L I F A F A N A V A V A M Y V V G F A p.280
. . | 07 . . . . g.29128
GAGACTGTAGTAGATCTTCTTAAG | GAGAGTGATTCGATGATGGTGGATCCAACCAATGAC c.900
E T V V D L L K | E S D S M M V D P T N D p.300
. . . . . . g.29188
ATCCGGATTATAGGCTCCATCACAGTGGTGATTCTTCTAGGAATTTCAGTAGCTGGAATG c.960
I R I I G S I T V V I L L G I S V A G M p.320
. | 08 . . . . . g.31471
GAATGGGAGGCAAAG | GCCCAAGTCATTCTTCTGGTCATTCTTCTAATTGCTATTGCAAAC c.1020
E W E A K | A Q V I L L V I L L I A I A N p.340
. . . . . . g.31531
TTCTTCATTGGAACTGTCATTCCATCCAACAATGAGAAAAAGTCCAGAGGTTTCTTTAAT c.1080
F F I G T V I P S N N E K K S R G F F N p.360
| 09. . . . . . g.33629
TACCAAG | CATCAATATTTGCAGAAAACTTTGGGCCACGCTTCACAAAGGGTGAAGGCTTC c.1140
Y Q A | S I F A E N F G P R F T K G E G F p.380
. . . . . . g.33689
TTCTCTGTCTTTGCCATTTTTTTCCCAGCAGCTACTGGGATTCTTGCTGGTGCCAATATC c.1200
F S V F A I F F P A A T G I L A G A N I p.400
. | 10 . . . . . g.40259
TCAGGAGATTTGGAG | GATCCCCAAGATGCCATCCCCAGAGGAACCATGCTGGCCATTTTC c.1260
S G D L E | D P Q D A I P R G T M L A I F p.420
. . . . | 11 . . g.43472
ATCACCACTGTTGCCTACTTAGGGGTTGCAATTTGTGTAG | GGGCCTGTGTGGTCCGAGAT c.1320
I T T V A Y L G V A I C V G | A C V V R D p.440
. . . . . . g.43532
GCCACCGGGAACATGAATGACACCATCATTTCTGGGATGAACTGCAATGGTTCAGCAGCA c.1380
A T G N M N D T I I S G M N C N G S A A p.460
. . . . . . g.43592
TGTGGGTTGGGCTATGACTTCTCAAGATGTCGACATGAACCATGTCAGTACGGGCTGATG c.1440
C G L G Y D F S R C R H E P C Q Y G L M p.480
. | 12 . . . . . g.45656
AACAATTTCCAG | GTCATGAGCATGGTATCAGGGTTCGGCCCCCTCATCACTGCGGGAATC c.1500
N N F Q | V M S M V S G F G P L I T A G I p.500
. . . . . . g.45716
TTTTCTGCAACACTCTCCTCCGCCCTGGCCTCCCTTGTCAGCGCACCCAAAGTGTTCCAG c.1560
F S A T L S S A L A S L V S A P K V F Q p.520
| 13 . . . . . . g.46096
| GCTCTGTGCAAGGACAACATCTACAAAGCCCTGCAGTTTTTTGCAAAGGGATATGGGAAA c.1620
| A L C K D N I Y K A L Q F F A K G Y G K p.540
. . . . . . g.46156
AACAATGAACCCCTGAGAGGATATATTCTCACTTTTCTTATAGCCATGGCATTTATTCTT c.1680
N N E P L R G Y I L T F L I A M A F I L p.560
| 14 . . . . . . g.48330
ATTG | CGGAACTGAACACCATTGCTCCCATCATCTCCAACTTTTTCCTGGCCTCATATGCA c.1740
I A | E L N T I A P I I S N F F L A S Y A p.580
. . . . | 15 . . g.50328
CTTATTAATTTCTCCTGCTTCCATGCCTCTTATGCCAAATCTCCAG | GATGGAGACCTGCG c.1800
L I N F S C F H A S Y A K S P G | W R P A p.600
. . . . . . g.50388
TATGGAATTTACAACATGTGGGTATCTCTTTTTGGAGCTGTTTTGTGCTGTGCAGTCATG c.1860
Y G I Y N M W V S L F G A V L C C A V M p.620
. . . . . . g.50448
TTTGTCATCAACTGGTGGGCAGCTGTCATCACCTATGTCATTGAATTCTTCCTTTACGTC c.1920
F V I N W W A A V I T Y V I E F F L Y V p.640
. . | 16 . . . . g.54548
TATGTGACTTGTAAGAAGCCAG | ATGTGAACTGGGGCTCCTCCACACAGGCTCTTTCCTAC c.1980
Y V T C K K P D | V N W G S S T Q A L S Y p.660
. . . . . . g.54608
GTGAGTGCTTTAGACAATGCTCTGGAATTAACCACAGTGGAAGACCACGTAAAAAACTTC c.2040
V S A L D N A L E L T T V E D H V K N F p.680
| 17 . . . . . . g.57957
AG | GCCCCAGTGCATTGTCTTAACAGGGGGACCCATGACAAGACCTGCTCTCCTGGACATA c.2100
R | P Q C I V L T G G P M T R P A L L D I p.700
. . . . . | 18 . g.66266
ACTCACGCCTTTACCAAGAACAGTGGCCTTTGCATCTGCTGTGAAGTCTTTGTG | GGACCG c.2160
T H A F T K N S G L C I C C E V F V | G P p.720
. . . . . . g.66326
CGCAAACTGTGTGTTAAGGAGATGAACAGTGGCATGGCGAAAAAACAGGCCTGGCTTATA c.2220
R K L C V K E M N S G M A K K Q A W L I p.740
. . . . . . g.66386
AAGAACAAAATCAAGGCTTTTTATGCTGCAGTGGCGGCAGACTGTTTCAGGGATGGTGTC c.2280
K N K I K A F Y A A V A A D C F R D G V p.760
. | 19 . . . . . g.68402
CGAAGTCTTCTTCAG | GCCTCAGGCTTAGGAAGAATGAAACCAAACACTCTGGTGATTGGA c.2340
R S L L Q | A S G L G R M K P N T L V I G p.780
. . . . . . g.68462
TATAAGAAAAACTGGAGGAAAGCTCCCTTGACAGAGATTGAGAACTACGTGGGAATCATA c.2400
Y K K N W R K A P L T E I E N Y V G I I p.800
| 20 . . . . . . g.73328
CA | TGATGCATTTGATTTTGAGATTGGCGTGGTTATAGTCAGAATCAGCCAAGGATTTGAC c.2460
H | D A F D F E I G V V I V R I S Q G F D p.820
. . | 21 . . . . g.83840
ATCTCTCAGGTTCTTCAGGTGCAAG | AGGAATTAGAGAGATTAGAACAGGAGAGACTAGCA c.2520
I S Q V L Q V Q E | E L E R L E Q E R L A p.840
. . . . . . g.83900
TTGGAAGCGACTATCAAAGATAATGAGTGTGAAGAGGAAAGTGGAGGCATCCGAGGCTTG c.2580
L E A T I K D N E C E E E S G G I R G L p.860
. . . . | 22 . g.86753
TTTAAAAAAGCTGGCAAGTTGAACATTACTAAGACAACGCCTAAAAAAG | ATGGCAGCATT c.2640
F K K A G K L N I T K T T P K K D | G S I p.880
. . . . . . g.86813
AACACAAGCCAGTCGATGCATGTGGGAGAGTTCAACCAGAAACTGGTGGAAGCCAGCACT c.2700
N T S Q S M H V G E F N Q K L V E A S T p.900
. . . . . . g.86873
CAATTTAAAAAGAAACAAGAAAAAGGCACAATTGATGTTTGGTGGTTGTTTGATGATGGA c.2760
Q F K K K Q E K G T I D V W W L F D D G p.920
| 23 . . . . . . g.87163
G | GGTTAACACTTCTTATCCCCTATATCTTAACTCTCAGAAAAAAATGGAAAGACTGTAAA c.2820
G | L T L L I P Y I L T L R K K W K D C K p.940
. . . . . | 24 . g.90484
TTAAGAATCTATGTGGGAGGGAAGATCAACCGCATTGAAGAAGAAAAAATTGT | AATGGCT c.2880
L R I Y V G G K I N R I E E E K I V | M A p.960
. . . . . . g.90544
TCCCTTCTGAGCAAATTTAGGATAAAATTTGCAGACATCCATATCATCGGTGACATCAAC c.2940
S L L S K F R I K F A D I H I I G D I N p.980
. . | 25 . . . . g.97879
ATTAGGCCAAACAAAGAGAG | CTGGAAAGTCTTTGAAGAGATGATTGAACCATATCGTCTC c.3000
I R P N K E S | W K V F E E M I E P Y R L p.1000
. . . . . . g.97939
CATGAAAGCTGCAAAGATTTAACAACTGCTGAGAAATTAAAAAGAGAAACTCCGTGGAAA c.3060
H E S C K D L T T A E K L K R E T P W K p.1020
. . . | 26 . . . g.100038
ATTACAGATGCAGAACTGGAAGCAGTCAAGGAAAAG | AGTTACCGCCAAGTTCGACTGAAT c.3120
I T D A E L E A V K E K | S Y R Q V R L N p.1040
. . . . | 27 . . g.101465
GAACTCTTACAGGAGCACTCCAGAGCTGCTAATCTCATTGTCCT | GAGCCTTCCCGTGGCA c.3180
E L L Q E H S R A A N L I V L | S L P V A p.1060
. . . . . . g.101525
AGAAAGGGATCCATATCGGATTTGTTGTATATGGCTTGGTTGGAAATCCTCACAAAGAAC c.3240
R K G S I S D L L Y M A W L E I L T K N p.1080
. . . . . . g.101585
CTCCCACCTGTCTTACTAGTTAGAGGAAATCACAAAAATGTCTTGACATTTTACTCTTAA c.3300
L P P V L L V R G N H K N V L T F Y S X p.1099
. . . . . . g.101645
aacatgaaagattggaatacattttaacttaatgtaatgcataattaagaaacatgttcc c.*60
. . . . . . g.101705
agtactttatgttgtaaatctgatctatggatatgcaaacctctggagaggatcctacca c.*120
. . . . . . g.101765
gattctacatacattgcataatttttatcagttaatgcgagcttttttttctcttctcag c.*180
. . . . . . g.101825
cttaaggggttgtcaaagccaatgttatccctagaaaaacatttttgtcactgctgttga c.*240
. . . . . . g.101885
taaacaagaaaatcaaggaaactcatgttggcttatgctcatgaaaaccaccaatgtgat c.*300
. . . . . . g.101945
tgtaaacttctccagacaaacttaaccttttgtttcttaattttttgttttgagtgtttg c.*360
. . . . . . g.102005
cttctcagccctggtataggtctcagccccacagcaggatctcaataaatgcttattgac c.*420
. . . . . . g.102065
aggctggcatagtaaccacaggtggttatcaaaggaaaagaccaataggctggggaacat c.*480
. . . . . . g.102125
aattatgcttggccccctcagaggcttatacctccaaagcagatttaaaaatcagtaact c.*540
. . . . . . g.102185
caaaactttaagaagtagttgagtctacaaaatattcaaagcagttacctaaataaggtt c.*600
. . . . . . g.102245
atttaatgtaacagattatatacttaaagtgatctgagcaatcattgataacatatggct c.*660
. . . . . . g.102305
taaatttgctgctgcctgaaaagtatattaactagattagaagacaccatatactccaat c.*720
. . . . . . g.102365
aaaatgaaatatattctattctcaatatataaactttaattgtactccctatcaaatatt c.*780
. . . . . . g.102425
ttgaaatttccatcacggcattactttgcatatttttttctaattaaatggttagtacag c.*840
. . . . . . g.102485
atgaaatctttatagatgactacttgaaaactaagtgctacaaattttcaaaccattatt c.*900
. . . . . . g.102545
aagaaatatatcctgaatcatatatttagttactttctatagtgattgtatggatttaaa c.*960
. . . . . . g.102605
agaataattaaaatgtgaagttgaaaaacttgtaaaatttggaatatacagatactgatt c.*1020
. . . . . . g.102665
tttttcatttttgttagtatacctataatacataatcacattgacaaaccaatgaaaata c.*1080
. . . . . . g.102725
ttgattttctgatgaatggcttgatttttctccttgacatgttttgactgttcattctaa c.*1140
. . . . . g.102778
ctgaaaacatatatgggaaaatatgaacctgaaataaaagcactcaaattcaa c.*1193
(downstream sequence)
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