Canonical Allele Identifier: CA366330669

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160154814-G-C
• MyVariant Identifiers: chr6:g.160575846G>C (hg19) ; chr6:g.160154814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154814G>C , CM000668.2:g.160154814G>C	GRCh38
NC_000006.11:g.160575846G>C , CM000668.1:g.160575846G>C	GRCh37
NC_000006.10:g.160495836G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366963.9:c.1402G>C MANE Select	ENSP00000355930.4:p.Val468Leu
ENST00000324965.8:c.1386-1161G>C	ENSP00000318103.4:n.1386-1161G>C
ENST00000366963.8:c.1402G>C	ENSP00000355930.4:p.Val468Leu
ENST00000457470.6:c.1386-3702G>C	ENSP00000409557.2:n.1386-3702G>C
ENST00000460902.2:c.1187G>C	ENSP00000439274.1:n.1187G>C
ENST00000539263.5:c.*875G>C	ENSP00000443245.1:n.*875G>C
NM_003057.2:c.1402G>C	NP_003048.1:p.Val468Leu
NM_153187.1:c.1386-1161G>C	NP_694857.1:n.1386-1161G>C
XM_005267102.3:c.1402G>C	XP_005267159.1:p.Val468Leu
XM_005267103.1:c.1402G>C	XP_005267160.1:p.Val468Leu
XM_005267104.3:c.826G>C	XP_005267161.1:p.Val276Leu
XM_005267105.3:c.826G>C	XP_005267162.1:p.Val276Leu
XM_006715552.1:c.1386-3702G>C	XP_006715615.1:n.1386-3702G>C
XM_011536074.1:c.826G>C	XP_011534376.1:p.Val276Leu
XM_005267102.5:c.1402G>C	XP_005267159.1:p.Val468Leu
XM_005267103.2:c.1402G>C	XP_005267160.1:p.Val468Leu
XM_005267104.5:c.826G>C	XP_005267161.1:p.Val276Leu
XM_005267105.5:c.826G>C	XP_005267162.1:p.Val276Leu
XM_006715552.2:c.1386-3702G>C	XP_006715615.1:n.1386-3702G>C
XM_011536074.3:c.826G>C	XP_011534376.1:p.Val276Leu
NM_003057.3:c.1402G>C MANE Select	NP_003048.1:p.Val468Leu
NM_153187.2:c.1386-1161G>C	NP_694857.1:n.1386-1161G>C