(used for variant description)
(last modified February 3, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001164277.1 in the SLC37A4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013331.1, covering SLC37A4 transcript NM_001164277.1.
(upstream sequence)
. . . g.5037
gcttgcgcagccttcgctagccccgccccgtcctatt c.-721
. . . | 02 . . . g.5210
cgggctcccgcctctgttcag | ttccagagacaattcatgggtcttggggccaccgaggcg c.-661
. . . . . . g.5270
ctgtccctgaccaccagcacgagacccctttctatcgcgccagtcctgtggtctccgcac c.-601
. . . . . . g.5330
ctctccagctcctgcacccccggcccccgtggttcccagccgcacagtagcgtgtcctgg c.-541
. . . . . . g.5390
gtagcgtgaggacccacggggctgggcaggtgccacgagcccgccgcctcttcgccgccc c.-481
. . . . . . g.5450
gccgcctctcctcctctcccgcccgccgcctggccctcccctaccaggctgagcctctgg c.-421
. . . . . . g.5510
gtgccagaagcgcggggcctccgggagaatacgtgcggtcgcccgctccgcgtgcgccta c.-361
. . . . . . g.5570
cgccttctgctccagttgctttcccaattgagcggaaaagccggggcatgttgccggggc c.-301
. . . . . . g.5630
cctgggcgggacggttgtgccctgcagcccgaagcccgccggggcaccttcccgcccacg c.-241
. . . . . | 03 . g.6357
agctgcccagtccctctgcttgcggcccctgccaacgtcccacag | gacactgggtcccct c.-181
. . . . . . g.6417
tggagcctccccaggcttaatgattgtccagaaggcggctataaagggagcctgggaggc c.-121
. . . . . . g.6477
tgggtggaggagggagcagaaaaaacccaactcagcagatctgggaactgtgagagcggc c.-61
. . . . . . g.6537
aagcaggaactgtggtcagaggctgtgcgtcttggctggtagggcctgctcttttctacc c.-1
. . . . . . g.6597
ATGGCAGCCCAGGGCTATGGCTATTATCGCACTGTGATCTTCTCAGCCATGTTTGGGGGC c.60
M A A Q G Y G Y Y R T V I F S A M F G G p.20
. . . . . . g.6657
TACAGCCTGTATTACTTCAATCGCAAGACCTTCTCCTTTGTCATGCCATCATTGGTGGAA c.120
Y S L Y Y F N R K T F S F V M P S L V E p.40
. . | 04 . . . g.7512
GAGATCCCTTTGGACAAGGATGATTTGG | GGTTCATCACCAGCAGCCAGTCGGCAGCTTAT c.180
E I P L D K D D L G | F I T S S Q S A A Y p.60
. . . . . . g.7572
GCTATCAGCAAGTTTGTCAGTGGGGTGCTGTCTGACCAGATGAGTGCTCGCTGGCTCTTC c.240
A I S K F V S G V L S D Q M S A R W L F p.80
. . . . . . g.7632
TCTTCTGGGCTGCTCCTGGTTGGCCTGGTCAACATATTCTTTGCCTGGAGCTCCACAGTA c.300
S S G L L L V G L V N I F F A W S S T V p.100
. . . . . . g.7692
CCTGTCTTTGCTGCCCTCTGGTTCCTTAATGGCCTGGCCCAGGGGCTGGGCTGGCCCCCA c.360
P V F A A L W F L N G L A Q G L G W P P p.120
. . | 05 . . . . g.8073
TGTGGGAAGGTCCTGCGGAAG | TGGTTTGAGCCATCTCAGTTTGGCACTTGGTGGGCCATC c.420
C G K V L R K | W F E P S Q F G T W W A I p.140
. . . . . . g.8133
CTGTCAACCAGCATGAACCTGGCTGGAGGGCTGGGCCCTATCCTGGCAACCATCCTTGCC c.480
L S T S M N L A G G L G P I L A T I L A p.160
. . . . . . g.8193
CAGAGCTACAGCTGGCGCAGCACGCTGGCCCTATCTGGGGCACTGTGGTGTGGTTGTCTC c.540
Q S Y S W R S T L A L S G A L W C G C L p.180
. . . g.8223
CTTCCTCTGTCTCCTGCTCATCCACAATGA c.570
L P L S P A H P Q X p.189
. . . . . | 06 . g.8815
acctgctgatgttggactccgcaacctggaccccatgccctctgagggcaagaagg | gctc c.*60
. . . . . . g.8875
cttgaaggaggagagcaccctgcaggagctgctgctgtccccttacctgtgggtgctctc c.*120
. . . . . . g.8935
cactggttaccttgtggtgtttggagtaaagacctgctgtactgactggggccagttctt c.*180
. . . | 07 . . . g.9243
ccttatccaggagaaaggacagtcagcccttgtag | gtagctcctacatgagtgccctgga c.*240
. . . . . . g.9303
agttgggggccttgtaggcagcatcgcagctggctacctgtcagaccgggccatggcaaa c.*300
| 08 . . . . . . g.9885
g | gcgggactgtccaactacgggaaccctcgccatggcctgttgctgttcatgatggctgg c.*360
. . . . . | 09 . g.10582
catgacagtgtccatgtacctcttccgggtaacagtgaccagtgactcccccaag | ctctg c.*420
. . . . . . g.10642
gatcctggtattgggagctgtatttggtttctcctcgtatggccccattgccctgtttgg c.*480
. . . . . . g.10702
agtcatagccaacgagagtgcccctcccaacttgtgtggcacctcccacgccattgtggg c.*540
. | 10 . . . . . g.10876
actcatggccaatg | tgggcggctttctggctgggctgcccttcagcaccattgccaagca c.*600
. . . . . . g.10936
ctacagttggagcacagccttctgggtggctgaagtgatttgtgcggccagcacggctgc c.*660
. . . . . . g.10996
cttcttcctcctacgaaacatccgcaccaagatgggccgagtgtccaagaaggctgagtg c.*720
. . . . . . g.11056
aagagagtccaggttccggagcaccatcccacggtggccttccccctgcacgctctgcgg c.*780
. . . . . . g.11116
ggagaaaaggaggggcctgcctggctagccctgaacctttcactttccatttctgcgcct c.*840
. . . . . . g.11176
tttctgtcacccgggtggcgctggaagttatcagtggctagtgaggtcccagctccctga c.*900
. . . . . . g.11236
tcctatgctctatttaaaagataacctttggccttagactccgttagctcctatttcctg c.*960
. . . . . . g.11296
ccttcagacaaacaggaaacttctgcagtcaggaaggctcctgtacccttcttcttttcc c.*1020
. . . . . . g.11356
taggccctgtcctgcccgcatcctaccccatccccacctgaagtgaggctatccctgcag c.*1080
. . . . . . g.11416
ctgcagggcactaatgacccttgacttctgctgggtcctaagtcctctcagcagtgggtg c.*1140
. . . . . . g.11476
actgctgttgccaatacctcagactccagggaaagagaggaggccatcattctcactgta c.*1200
. . . . . . g.11536
ccactaggcgcagttggatataggtgggaagaaaaggtgacttgttatagaagattaaaa c.*1260
. . g.11556
ctagatttgatactgaacac c.*1280
(downstream sequence)
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