Canonical Allele Identifier: CA453013598

Gene: SLC22A1

Linked Data

• MyVariant Identifiers: chr6:g.160575936T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154904T>C , CM000668.2:g.160154904T>C	GRCh38
NC_000006.11:g.160575936T>C , CM000668.1:g.160575936T>C	GRCh37
NC_000006.10:g.160495926T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1492T>C MANE Select	ENSP00000355930.4:p.Leu498=
ENST00000324965.8:c.1386-1071T>C	ENSP00000318103.4:n.1386-1071T>C
ENST00000366963.8:c.1492T>C	ENSP00000355930.4:p.Leu498=
ENST00000457470.6:c.1386-3612T>C	ENSP00000409557.2:n.1386-3612T>C
ENST00000460902.2:c.1277T>C	ENSP00000439274.1:n.1277T>C
ENST00000539263.5:c.*965T>C	ENSP00000443245.1:n.*965T>C
NM_003057.2:c.1492T>C	NP_003048.1:p.Leu498=
NM_153187.1:c.1386-1071T>C	NP_694857.1:n.1386-1071T>C
XM_005267102.3:c.1492T>C	XP_005267159.1:p.Leu498=
XM_005267103.1:c.1492T>C	XP_005267160.1:p.Leu498=
XM_005267104.3:c.916T>C	XP_005267161.1:p.Leu306=
XM_005267105.3:c.916T>C	XP_005267162.1:p.Leu306=
XM_006715552.1:c.1386-3612T>C	XP_006715615.1:n.1386-3612T>C
XM_011536074.1:c.916T>C	XP_011534376.1:p.Leu306=
XM_005267102.5:c.1492T>C	XP_005267159.1:p.Leu498=
XM_005267103.2:c.1492T>C	XP_005267160.1:p.Leu498=
XM_005267104.5:c.916T>C	XP_005267161.1:p.Leu306=
XM_005267105.5:c.916T>C	XP_005267162.1:p.Leu306=
XM_006715552.2:c.1386-3612T>C	XP_006715615.1:n.1386-3612T>C
XM_011536074.3:c.916T>C	XP_011534376.1:p.Leu306=
NM_003057.3:c.1492T>C MANE Select	NP_003048.1:p.Leu498=
NM_153187.2:c.1386-1071T>C	NP_694857.1:n.1386-1071T>C