Canonical Allele Identifier: CA4083755

Gene: SLC22A1

Linked Data

• dbSNP Id: rs376456834
• ExAC: 6:160553319 G / C
• gnomAD v2: 6-160553319-G-C
• gnomAD v3: 6-160132287-G-C
• gnomAD v4: 6-160132287-G-C
• MyVariant Identifiers: chr6:g.160553319G>C (hg19) ; chr6:g.160132287G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160132287G>C , CM000668.2:g.160132287G>C	GRCh38
NC_000006.11:g.160553319G>C , CM000668.1:g.160553319G>C	GRCh37
NC_000006.10:g.160473309G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366963.9:c.571G>C MANE Select	ENSP00000355930.4:p.Val191Leu
ENST00000324965.8:c.571G>C	ENSP00000318103.4:p.Val191Leu
ENST00000366963.8:c.571G>C	ENSP00000355930.4:p.Val191Leu
ENST00000457470.6:c.571G>C	ENSP00000409557.2:p.Val191Leu
ENST00000460902.2:c.571G>C	ENSP00000439274.1:p.Val191Leu
ENST00000539263.5:c.*44G>C	ENSP00000443245.1:n.*44G>C
ENST00000540443.1:c.-6G>C	ENSP00000440105.1:n.-6G>C
NM_003057.2:c.571G>C	NP_003048.1:p.Val191Leu
NM_153187.1:c.571G>C	NP_694857.1:p.Val191Leu
XM_005267102.3:c.571G>C	XP_005267159.1:p.Val191Leu
XM_005267103.1:c.571G>C	XP_005267160.1:p.Val191Leu
XM_005267104.3:c.-6G>C	XP_005267161.1:n.-6G>C
XM_005267105.3:c.-6G>C	XP_005267162.1:n.-6G>C
XM_006715552.1:c.571G>C	XP_006715615.1:p.Val191Leu
XM_011536074.1:c.-6G>C	XP_011534376.1:n.-6G>C
XM_005267102.5:c.571G>C	XP_005267159.1:p.Val191Leu
XM_005267103.2:c.571G>C	XP_005267160.1:p.Val191Leu
XM_005267104.5:c.-6G>C	XP_005267161.1:n.-6G>C
XM_005267105.5:c.-6G>C	XP_005267162.1:n.-6G>C
XM_006715552.2:c.571G>C	XP_006715615.1:p.Val191Leu
XM_011536074.3:c.-6G>C	XP_011534376.1:n.-6G>C
NM_003057.3:c.571G>C MANE Select	NP_003048.1:p.Val191Leu
NM_153187.2:c.571G>C	NP_694857.1:p.Val191Leu