Canonical Allele Identifier: CA4084017
Gene: SLC22A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1283709
ClinVar RCV Id: RCV001691749
dbSNP Id: rs628031

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139813A>G , CM000668.2:g.160139813A>G GRCh38
NC_000006.11:g.160560845A>G , CM000668.1:g.160560845A>G GRCh37
NC_000006.10:g.160480835A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366963.9:c.1222A>G MANE Select ENSP00000355930.4:p.Met408Val
ENST00000324965.8:c.1222A>G ENSP00000318103.4:p.Met408Val
ENST00000366963.8:c.1222A>G ENSP00000355930.4:p.Met408Val
ENST00000457470.6:c.1222A>G ENSP00000409557.2:p.Met408Val
ENST00000460902.2:c.1061+3163A>G ENSP00000439274.1:n.1061+3163A>G
ENST00000539263.5:c.*695A>G ENSP00000443245.1:n.*695A>G
NM_003057.2:c.1222A>G NP_003048.1:p.Met408Val
NM_153187.1:c.1222A>G NP_694857.1:p.Met408Val
XM_005267102.3:c.1222A>G XP_005267159.1:p.Met408Val
XM_005267103.1:c.1222A>G XP_005267160.1:p.Met408Val
XM_005267104.3:c.646A>G XP_005267161.1:p.Met216Val
XM_005267105.3:c.646A>G XP_005267162.1:p.Met216Val
XM_006715552.1:c.1222A>G XP_006715615.1:p.Met408Val
XM_011536074.1:c.646A>G XP_011534376.1:p.Met216Val
XM_005267102.5:c.1222A>G XP_005267159.1:p.Met408Val
XM_005267103.2:c.1222A>G XP_005267160.1:p.Met408Val
XM_005267104.5:c.646A>G XP_005267161.1:p.Met216Val
XM_005267105.5:c.646A>G XP_005267162.1:p.Met216Val
XM_006715552.2:c.1222A>G XP_006715615.1:p.Met408Val
XM_011536074.3:c.646A>G XP_011534376.1:p.Met216Val
NM_003057.3:c.1222A>G MANE Select NP_003048.1:p.Met408Val
NM_153187.2:c.1222A>G NP_694857.1:p.Met408Val