Canonical Allele Identifier: CA4084116
Gene: SLC22A1 HGNC NCBI

Linked Data

dbSNP Id: rs376666175

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160154868A>T , CM000668.2:g.160154868A>T GRCh38
NC_000006.11:g.160575900A>T , CM000668.1:g.160575900A>T GRCh37
NC_000006.10:g.160495890A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1456A>T MANE Select ENSP00000355930.4:p.Arg486Trp
ENST00000324965.8:c.1386-1107A>T ENSP00000318103.4:n.1386-1107A>T
ENST00000366963.8:c.1456A>T ENSP00000355930.4:p.Arg486Trp
ENST00000457470.6:c.1386-3648A>T ENSP00000409557.2:n.1386-3648A>T
ENST00000460902.2:c.1241A>T ENSP00000439274.1:n.1241A>T
ENST00000539263.5:c.*929A>T ENSP00000443245.1:n.*929A>T
NM_003057.2:c.1456A>T NP_003048.1:p.Arg486Trp
NM_153187.1:c.1386-1107A>T NP_694857.1:n.1386-1107A>T
XM_005267102.3:c.1456A>T XP_005267159.1:p.Arg486Trp
XM_005267103.1:c.1456A>T XP_005267160.1:p.Arg486Trp
XM_005267104.3:c.880A>T XP_005267161.1:p.Arg294Trp
XM_005267105.3:c.880A>T XP_005267162.1:p.Arg294Trp
XM_006715552.1:c.1386-3648A>T XP_006715615.1:n.1386-3648A>T
XM_011536074.1:c.880A>T XP_011534376.1:p.Arg294Trp
XM_005267102.5:c.1456A>T XP_005267159.1:p.Arg486Trp
XM_005267103.2:c.1456A>T XP_005267160.1:p.Arg486Trp
XM_005267104.5:c.880A>T XP_005267161.1:p.Arg294Trp
XM_005267105.5:c.880A>T XP_005267162.1:p.Arg294Trp
XM_006715552.2:c.1386-3648A>T XP_006715615.1:n.1386-3648A>T
XM_011536074.3:c.880A>T XP_011534376.1:p.Arg294Trp
NM_003057.3:c.1456A>T MANE Select NP_003048.1:p.Arg486Trp
NM_153187.2:c.1386-1107A>T NP_694857.1:n.1386-1107A>T