(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004727.2 in the SLC24A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031968.2, covering SLC24A1 transcript NM_004727.2.
(upstream sequence)
. . . . g.5047
cccttcacacccgaccctgccttgaattaggattccataggagagct c.-241
. . . . . . g.5107
gggggcaggagaatggggtgttccctgctgtccagcttcagacccactctttgagatatt c.-181
. . . . . . | 02 g.7029
ggattctgacaagtttccagagctgagaagacagccagatgtcaaggtctgaag | ggttgt c.-121
. . . . . . g.7089
ggataccccctggctgggcttcatggagaaatcttctctgatcaccaacctgaatcccag c.-61
. . . . . . g.7149
agtagcctccatcttaggacagaatgagaggccttctgtaaccagatataactggccagc c.-1
. . . . . . g.7209
ATGGGGAAATTGATCAGGATGGGGCCGCAAGAGAGGTGGTTACTCCGGACAAAGCGGCTT c.60
M G K L I R M G P Q E R W L L R T K R L p.20
. . . . . . g.7269
CATTGGAGTCGCCTCCTCTTCTTACTGGGAATGTTGATCATCGGTTCTACTTATCAGCAC c.120
H W S R L L F L L G M L I I G S T Y Q H p.40
. . . . . . g.7329
CTTAGGAGACCCCGGGGCCTTTCCTCATTGTGGGCAGCAGTCTCTTCTCATCAGCCTATA c.180
L R R P R G L S S L W A A V S S H Q P I p.60
. . . . . . g.7389
AAACTGGCCAGTCGGGACCTCTCCAGTGAAGAGATGATGATGATGAGCAGCAGCCCTTCA c.240
K L A S R D L S S E E M M M M S S S P S p.80
. . . . . . g.7449
AAACCTAGCTCCGAAATGGGGGGTAAGATGCTGGTACCCCAAGCCTCAGTGGGCAGTGAT c.300
K P S S E M G G K M L V P Q A S V G S D p.100
. . . . . . g.7509
GAAGCAACACTGAGCATGACAGTGGAGAATATCCCCAGTATGCCTAAAAGAACAGCCAAG c.360
E A T L S M T V E N I P S M P K R T A K p.120
. . . . . . g.7569
ATGATCCCAACAACAACCAAGAATAATTACAGCCCAACAGCAGCAGGTACAGAAAGAAGG c.420
M I P T T T K N N Y S P T A A G T E R R p.140
. . . . . . g.7629
AAGGAAGACACCCCAACATCCAGTAGAACACTGACTTACTACACCTCAACTTCAAGCAGA c.480
K E D T P T S S R T L T Y Y T S T S S R p.160
. . . . . . g.7689
CAAATAGTAAAAAAGTATACCCCAACACCCAGGGGAGAAATGAAGAGCTACAGCCCAACT c.540
Q I V K K Y T P T P R G E M K S Y S P T p.180
. . . . . . g.7749
CAAGTGAGGGAAAAGGTGAAGTATACTCCTTCCCCACGTGGTAGAAGAGTAGGCACTTAC c.600
Q V R E K V K Y T P S P R G R R V G T Y p.200
. . . . . . g.7809
GTGCCGTCCACATTCATGACAATGGAAACAAGCCATGCGATCACCCCCAGGACAACAGTG c.660
V P S T F M T M E T S H A I T P R T T V p.220
. . . . . . g.7869
AAAGACAGTGACATTACAGCAACCTATAAAATACTCGAAACCAACTCTCTTAAGAGAATA c.720
K D S D I T A T Y K I L E T N S L K R I p.240
. . . . . . g.7929
ATGGAGGAAACCACCCCAACCACTCTCAAGGGAATGTTTGATAGCACCCCAACTTTTCTG c.780
M E E T T P T T L K G M F D S T P T F L p.260
. . . . . . g.7989
ACACATGAGGTAGAAGCAAACGTCTTGACTTCTCCAAGGAGCGTCATGGAAAAAAACAAC c.840
T H E V E A N V L T S P R S V M E K N N p.280
. . . . . . g.8049
CTGTTTCCCCCCAGAAGAGTGGAAAGTAACAGCTCAGCCCATCCCTGGGGGTTAGTGGGA c.900
L F P P R R V E S N S S A H P W G L V G p.300
. . . . . . g.8109
AAGAGCAACCCGAAGACTCCCCAGGGAACAGTCCTGTTGCATACCCCAGCCACCTCTGAG c.960
K S N P K T P Q G T V L L H T P A T S E p.320
. . . . . . g.8169
GGGCAGGTGACAATAAGCACCATGACAGGCAGCAGCCCAGCAGAAACCAAAGCCTTCACT c.1020
G Q V T I S T M T G S S P A E T K A F T p.340
. . . . . . g.8229
GCTGCCTGGAGTCTTAGGAATCCTTCACCCAGGACCAGTGTATCAGCCATCAAAACAGCC c.1080
A A W S L R N P S P R T S V S A I K T A p.360
. . . . . . g.8289
CCAGCCATAGTCTGGAGGCTGGCAAAGAAACCTTCCACAGCACCCAGCACCTCAACAACC c.1140
P A I V W R L A K K P S T A P S T S T T p.380
. . . . . . g.8349
CCTACGGTCAGGGCAAAGCTGACCATGCAGGTCCATCACTGTGTGGTTGTGAAGCCAACC c.1200
P T V R A K L T M Q V H H C V V V K P T p.400
. . . . . . g.8409
CCAGCCATGCTCACCACTCCCTCCCCAAGCCTCACAACAGCCCTGCTCCCAGAGGAGCTC c.1260
P A M L T T P S P S L T T A L L P E E L p.420
. . . . . . g.8469
AGTCCTAGTCCCTCAGTGCTGCCTCCCAGCTTGCCAGACCTCCACCCCAAGGGAGAGTAC c.1320
S P S P S V L P P S L P D L H P K G E Y p.440
. . . . . . g.8529
CCCCCAGATCTGTTCAGTGTGGAGGAGCGGCGGCAGGGCTGGGTGGTCCTGCACGTTTTT c.1380
P P D L F S V E E R R Q G W V V L H V F p.460
. . . . . . g.8589
GGCATGATGTATGTGTTTGTGGCCTTGGCCATTGTTTGCGACGAGTACTTCGTTCCAGCC c.1440
G M M Y V F V A L A I V C D E Y F V P A p.480
. . . . . . g.8649
CTGGGTGTCATCACAGACAAGCTGCAGATCTCCGAGGATGTGGCAGGCGCCACATTCATG c.1500
L G V I T D K L Q I S E D V A G A T F M p.500
. . . . . . g.8709
GCTGCTGGAGGCTCTGCTCCTGAGCTCTTCACCTCCCTCATCGGTGTCTTCATTTCCCAC c.1560
A A G G S A P E L F T S L I G V F I S H p.520
. . . . . . g.8769
AGCAACGTGGGCATTGGTACCATTGTGGGCTCTGCTGTGTTCAACATTCTCTTTGTCATT c.1620
S N V G I G T I V G S A V F N I L F V I p.540
. . . . . . g.8829
GGCACTTGTTCCCTCTTCTCCCGAGAGATCCTCAACCTCACCTGGTGGCCCTTATTCCGT c.1680
G T C S L F S R E I L N L T W W P L F R p.560
. . . . . . g.8889
GATGTCTCCTTCTACATCCTTGACCTGATAATGCTCATCCTCTTCTTCCTGGACAGCCTC c.1740
D V S F Y I L D L I M L I L F F L D S L p.580
. . . . . . g.8949
ATTGCCTGGTGGGAGAGCCTGCTGCTGCTGCTGGCCTATGCCTTCTATGTGTTCACCATG c.1800
I A W W E S L L L L L A Y A F Y V F T M p.600
. . . . . . g.9009
AAGTGGAACAAGCATATCGAGGTCTGGGTGAAGGAGCAGCTCAGCAGGAGGCCAGTGGCC c.1860
K W N K H I E V W V K E Q L S R R P V A p.620
. . . | 03 . . . g.21226
AAGGTCATGGCCTTAGAAGACCTCAGCAAG | CCGGGCGATGGGGCCATTGCGGTGGATGAG c.1920
K V M A L E D L S K | P G D G A I A V D E p.640
. . | 04 . . . . g.22699
CTACAGGATAACAAGAAGCTGAAG | CTCCCGTCCTTGCTGACCCGAGGGAGCAGCTCGACC c.1980
L Q D N K K L K | L P S L L T R G S S S T p.660
. . . . . . g.22759
TCTCTGCACAACAGCACCATCCGCAGCACCATCTACCAGCTCATGCTCCACAGCCTGGAC c.2040
S L H N S T I R S T I Y Q L M L H S L D p.680
. | 05 . . . . . g.27542
CCCCTGAGGGAAG | TTCGCCTTGCCAAGGAGAAGGAGGAGGAGAGCTTGAATCAAGGGGCC c.2100
P L R E V | R L A K E K E E E S L N Q G A p.700
. . . . | 06 . . g.28700
AGAGCCCAACCCCAGGCCAAAGCAGAAAGCAAACCAGAAG | AGGAGGAGCCAGCCAAGCTC c.2160
R A Q P Q A K A E S K P E E | E E P A K L p.720
. . . . . . g.28760
CCTGCGGTCACGGTCACACCAGCCCCTGTTCCAGACATCAAGGGAGATCAGAAGGAGAAT c.2220
P A V T V T P A P V P D I K G D Q K E N p.740
. | 07 . . . . . g.33498
CCAGGCGGTCAG | GAAGATGTGGCTGAGGCCGAGAGCACAGGTGAAATGCCAGGCGAAGAG c.2280
P G G Q | E D V A E A E S T G E M P G E E p.760
. . . . . . g.33558
GGCGAAACTGCTGGTGAAGGTGAAACTGAAGAGAAAAGTGGAGGTGAAACTCAACCAGAA c.2340
G E T A G E G E T E E K S G G E T Q P E p.780
. . . . . . g.33618
GGTGAAGGTGAAACTGAAACACAAGGAAAAGGAGAAGAATGTGAAGATGAAAATGAAGCA c.2400
G E G E T E T Q G K G E E C E D E N E A p.800
. . . . . . g.33678
GAAGGAAAAGGAGACAATGAAGGTGAAGATGAGGGTGAAATCCACGCAGAAGATGGTGAA c.2460
E G K G D N E G E D E G E I H A E D G E p.820
. . . . . . g.33738
ATGAAAGGTAATGAAGGTGAAACTGAAAGCCAGGAACTCAGTGCTGAAAATCACGGTGAA c.2520
M K G N E G E T E S Q E L S A E N H G E p.840
. . . . . . g.33798
GCCAAAAATGATGAGAAAGGTGTAGAAGATGGAGGGGGAAGTGATGGAGGGGATAGCGAA c.2580
A K N D E K G V E D G G G S D G G D S E p.860
. . . . . . g.33858
GAGGAGGAAGAGGAGGAGGAAGAGCAGGAGGAAGAGGAGGAGGAGGAAGAGCAGGAGGAA c.2640
E E E E E E E E Q E E E E E E E E Q E E p.880
. . . . . . g.33918
GAGGAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGGAAATGAAGAGCCTCTGTCCCTGGAC c.2700
E E E E E E E E E E K G N E E P L S L D p.900
. . . . . . g.33978
TGGCCTGAAACCAGGCAGAAGCAGGCCATTTACCTCTTCCTTCTGCCCATCGTGTTCCCA c.2760
W P E T R Q K Q A I Y L F L L P I V F P p.920
. . . | 08 . . . g.34765
CTGTGGCTGACAGTCCCCGACGTCCGAAGGCAG | GAGTCTAGGAAGTTTTTTGTTTTCACC c.2820
L W L T V P D V R R Q | E S R K F F V F T p.940
. . . . . . g.34825
TTCCTGGGATCTATCATGTGGATAGCCATGTTCTCATACCTCATGGTGTGGTGGGCTCAC c.2880
F L G S I M W I A M F S Y L M V W W A H p.960
| 09 . . . . . . g.35767
CAG | GTTGGTGAAACAATAGGGATTTCTGAAGAGATCATGGGCCTGACAATCCTTGCAGCA c.2940
Q | V G E T I G I S E E I M G L T I L A A p.980
. . . . . . g.35827
GGCACATCAATTCCTGACCTCATCACCAGTGTGATTGTCGCTCGAAAAGGCCTGGGAGAC c.3000
G T S I P D L I T S V I V A R K G L G D p.1000
. . . . . | 10 . g.36908
ATGGCTGTGTCAAGCTCTGTGGGCAGTAACATATTTGATATCACTGTGGG | CTTGCCTGTT c.3060
M A V S S S V G S N I F D I T V G | L P V p.1020
. . . . . . g.36968
CCTTGGTTGCTTTTCTCTCTTATCAATGGATTACAGCCAGTTCCAGTCAGCAGCAATGGC c.3120
P W L L F S L I N G L Q P V P V S S N G p.1040
. . . . . . g.37028
TTGTTTTGTGCAATTGTTTTGCTTTTTCTCATGCTTCTGTTTGTGATCTCTTCAATTGCG c.3180
L F C A I V L L F L M L L F V I S S I A p.1060
. . . . . . g.37088
TCATGTAAATGGAGAATGAACAAGATCCTGGGCTTCACAATGTTCCTCCTTTACTTTGTA c.3240
S C K W R M N K I L G F T M F L L Y F V p.1080
. . . . . . g.37148
TTCCTGATAATCAGTGTGATGTTAGAAGATCGAATCATATCCTGTCCTGTATCTGTCTGA c.3300
F L I I S V M L E D R I I S C P V S V X p.1099
. . . . . . g.37208
atcagtcactcttgctcacaatgggcatggatcagaagaccatgcagaagttactgtatc c.*60
. . . . . . g.37268
tcttgtgaccctaatgaaagaatgtatatgatcctggaaagtgaactgggtgacctagga c.*120
. . . . . . g.37328
cctctgatatgaatgtgatctgagactaaagtttgtccttggaaacacctgcagctcatt c.*180
. . . . . . g.37388
gtggattaagaacctcacccctggaggggtggagtttctacccctgactcatgcagacat c.*240
. . . . . . g.37448
ctattacatggaggcagtagaaggacccctggagccagagggttttctaaatgagataac c.*300
. . . . . . g.37508
tgggggcaaaggttgggataggcgcagcagctataagacaagctcctacgctcactgttc c.*360
. . . . . . g.37568
cctgatcattccaaaggctgctggcccaaaagatgcagatgtggtctacatctcagcctt c.*420
. . . . . . g.37628
cctgacctctgccccaaacacacgctgcaattttgtctcctccttttctgttcaaattgt c.*480
. . . . . . g.37688
gaggttctatcaggtttgtaatcactgtagcttcagttattggtgagtctaaggatccaa c.*540
. . . . . . g.37748
ggctacagaaaaaaaagaaatataacaggaattaatgatcattccacgttttgtagccca c.*600
. . . . . . g.37808
ctgcatctggatatataccagtattttctttttttttttttttgagacagagtttggctc c.*660
. . . . . . g.37868
ttgttgcccaggctggtgtgcaatggcgtgatctcggcacaccacaaccttcacctcccc c.*720
. . . . . . g.37928
ggttcaagcaattctcctgcctcagcctgaagtcgtgatctgcccgcctcggcctcccaa c.*780
. . . . . . g.37988
agtgctgggattacaggcgtcagccaccgcgcctggcctataccagtattttctagttta c.*840
. . . . . . g.38048
aaggaggactacattaactcttattgttgtgtttctgaaaagtgaaatttaaaaagcagc c.*900
. . . . . . g.38108
ctgaaaaataaaaatttataatttgcccttgaattggaaggaatggagattagggaagga c.*960
. . . . . . g.38168
aaactactctagaggccatttaaaagtatgtatttattagaacatgcaaattcatgttgt c.*1020
. . . . . . g.38228
ctccatcagtggtcaccttgagggattagacattctaatggaatgtcctggctccaccct c.*1080
. . . . . . g.38288
ccagcatgttctcacccaacaatgacagttgagtggagtgggaagggaagtcattctaaa c.*1140
. . . . . . g.38348
gagtccaaagtcagtagcgccacatctggtttataaagtaagagatccagtgggacaatg c.*1200
. . . . . . g.38408
ctatttttgtatgccaacctagataggattataaagcaagactgatttcttctgtggttt c.*1260
. . . . . . g.38468
atgaatggatcttaaggtaattacaaaagggaaattccaagaatgcataacacaatgaca c.*1320
. . . . . . g.38528
acatggtgagaaaagtgcagtactacttccaaggtagctagtgtaaaggacacttgagtt c.*1380
. . . . . . g.38588
tttaaaactgtggttaaatgttttatgtggaatttgatgagtttgtatattaaataccac c.*1440
. . . . . . g.38648
tgcttgctgcttttactagaatcaagttaagggacacgttagaaatagaacagcttaata c.*1500
. . . . . . g.38708
tcactggcttcagagcaaaatgagctcgggtgactgcagattatgatggtaaatatggct c.*1560
. . . . . . g.38768
ttaattacaaacatgaggaatgattcactgaagatgaaaagataggacggatgtgatatg c.*1620
. . . . . . g.38828
aaaaaaacccaaacattttggcattgaatgatggctaaggtgttccaagtattccatctt c.*1680
. . . . . . g.38888
ttaagatgaattgcttaattaattgcctcgctaccccaggattctcattctttggaaata c.*1740
. . . . . . g.38948
atttttattaaatttcaataaactgtgaatcccaatggtattttactttacaacatggat c.*1800
. . . . . . g.39008
gggctcatccttatctttaggtcatttggtcagaatcctcccgagaagactgatgaagag c.*1860
. . . . . . g.39068
tatggaatcatgttccaattctatattcttaattatccttattcctgatgctactgcatt c.*1920
. . . . . . g.39128
gctgggtttccatagccaaggcctaagaacaggaggagaaggcaatgcttgtgggaggga c.*1980
. . . . . . g.39188
ggtcccaataccaaaattctgggcactaacctggtgtctgcagcccgttcccgttagcct c.*2040
. . . . . . g.39248
cggggatgtcacctcacccacagcctgggatctgacgttcttcctcagactggagtaagg c.*2100
. . . . . . g.39308
agtgatggaccgtaaaatgctgtgtaatgataaaaggctgaaatatccactgaatgatta c.*2160
. . g.39329
aaaccaactctaataatctga c.*2181
(downstream sequence)
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