Canonical Allele Identifier: CA366330816
Gene: SLC22A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160154884G>C , CM000668.2:g.160154884G>C GRCh38
NC_000006.11:g.160575916G>C , CM000668.1:g.160575916G>C GRCh37
NC_000006.10:g.160495906G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1472G>C MANE Select ENSP00000355930.4:p.Trp491Ser
ENST00000324965.8:c.1386-1091G>C ENSP00000318103.4:n.1386-1091G>C
ENST00000366963.8:c.1472G>C ENSP00000355930.4:p.Trp491Ser
ENST00000457470.6:c.1386-3632G>C ENSP00000409557.2:n.1386-3632G>C
ENST00000460902.2:c.1257G>C ENSP00000439274.1:n.1257G>C
ENST00000539263.5:c.*945G>C ENSP00000443245.1:n.*945G>C
NM_003057.2:c.1472G>C NP_003048.1:p.Trp491Ser
NM_153187.1:c.1386-1091G>C NP_694857.1:n.1386-1091G>C
XM_005267102.3:c.1472G>C XP_005267159.1:p.Trp491Ser
XM_005267103.1:c.1472G>C XP_005267160.1:p.Trp491Ser
XM_005267104.3:c.896G>C XP_005267161.1:p.Trp299Ser
XM_005267105.3:c.896G>C XP_005267162.1:p.Trp299Ser
XM_006715552.1:c.1386-3632G>C XP_006715615.1:n.1386-3632G>C
XM_011536074.1:c.896G>C XP_011534376.1:p.Trp299Ser
XM_005267102.5:c.1472G>C XP_005267159.1:p.Trp491Ser
XM_005267103.2:c.1472G>C XP_005267160.1:p.Trp491Ser
XM_005267104.5:c.896G>C XP_005267161.1:p.Trp299Ser
XM_005267105.5:c.896G>C XP_005267162.1:p.Trp299Ser
XM_006715552.2:c.1386-3632G>C XP_006715615.1:n.1386-3632G>C
XM_011536074.3:c.896G>C XP_011534376.1:p.Trp299Ser
NM_003057.3:c.1472G>C MANE Select NP_003048.1:p.Trp491Ser
NM_153187.2:c.1386-1091G>C NP_694857.1:n.1386-1091G>C