Canonical Allele Identifier: CA366328576
Gene: SLC22A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139772T>C , CM000668.2:g.160139772T>C GRCh38
NC_000006.11:g.160560804T>C , CM000668.1:g.160560804T>C GRCh37
NC_000006.10:g.160480794T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1181T>C MANE Select ENSP00000355930.4:p.Leu394Pro
ENST00000324965.8:c.1181T>C ENSP00000318103.4:p.Leu394Pro
ENST00000366963.8:c.1181T>C ENSP00000355930.4:p.Leu394Pro
ENST00000457470.6:c.1181T>C ENSP00000409557.2:p.Leu394Pro
ENST00000460902.2:c.1061+3122T>C ENSP00000439274.1:n.1061+3122T>C
ENST00000539263.5:c.*654T>C ENSP00000443245.1:n.*654T>C
NM_003057.2:c.1181T>C NP_003048.1:p.Leu394Pro
NM_153187.1:c.1181T>C NP_694857.1:p.Leu394Pro
XM_005267102.3:c.1181T>C XP_005267159.1:p.Leu394Pro
XM_005267103.1:c.1181T>C XP_005267160.1:p.Leu394Pro
XM_005267104.3:c.605T>C XP_005267161.1:p.Leu202Pro
XM_005267105.3:c.605T>C XP_005267162.1:p.Leu202Pro
XM_006715552.1:c.1181T>C XP_006715615.1:p.Leu394Pro
XM_011536074.1:c.605T>C XP_011534376.1:p.Leu202Pro
XM_005267102.5:c.1181T>C XP_005267159.1:p.Leu394Pro
XM_005267103.2:c.1181T>C XP_005267160.1:p.Leu394Pro
XM_005267104.5:c.605T>C XP_005267161.1:p.Leu202Pro
XM_005267105.5:c.605T>C XP_005267162.1:p.Leu202Pro
XM_006715552.2:c.1181T>C XP_006715615.1:p.Leu394Pro
XM_011536074.3:c.605T>C XP_011534376.1:p.Leu202Pro
NM_003057.3:c.1181T>C MANE Select NP_003048.1:p.Leu394Pro
NM_153187.2:c.1181T>C NP_694857.1:p.Leu394Pro