Canonical Allele Identifier: CA4083752

Gene: SLC22A1

Linked Data

• dbSNP Id: rs755967668
• ExAC: 6:160553317 G / T
• gnomAD v2: 6-160553317-G-T
• gnomAD v4: 6-160132285-G-T
• MyVariant Identifiers: chr6:g.160553317G>T (hg19) ; chr6:g.160132285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160132285G>T , CM000668.2:g.160132285G>T	GRCh38
NC_000006.11:g.160553317G>T , CM000668.1:g.160553317G>T	GRCh37
NC_000006.10:g.160473307G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366963.9:c.569G>T MANE Select	ENSP00000355930.4:p.Gly190Val
ENST00000324965.8:c.569G>T	ENSP00000318103.4:p.Gly190Val
ENST00000366963.8:c.569G>T	ENSP00000355930.4:p.Gly190Val
ENST00000457470.6:c.569G>T	ENSP00000409557.2:p.Gly190Val
ENST00000460902.2:c.569G>T	ENSP00000439274.1:p.Gly190Val
ENST00000539263.5:c.*42G>T	ENSP00000443245.1:n.*42G>T
ENST00000540443.1:c.-8G>T	ENSP00000440105.1:n.-8G>T
NM_003057.2:c.569G>T	NP_003048.1:p.Gly190Val
NM_153187.1:c.569G>T	NP_694857.1:p.Gly190Val
XM_005267102.3:c.569G>T	XP_005267159.1:p.Gly190Val
XM_005267103.1:c.569G>T	XP_005267160.1:p.Gly190Val
XM_005267104.3:c.-8G>T	XP_005267161.1:n.-8G>T
XM_005267105.3:c.-8G>T	XP_005267162.1:n.-8G>T
XM_006715552.1:c.569G>T	XP_006715615.1:p.Gly190Val
XM_011536074.1:c.-8G>T	XP_011534376.1:n.-8G>T
XM_005267102.5:c.569G>T	XP_005267159.1:p.Gly190Val
XM_005267103.2:c.569G>T	XP_005267160.1:p.Gly190Val
XM_005267104.5:c.-8G>T	XP_005267161.1:n.-8G>T
XM_005267105.5:c.-8G>T	XP_005267162.1:n.-8G>T
XM_006715552.2:c.569G>T	XP_006715615.1:p.Gly190Val
XM_011536074.3:c.-8G>T	XP_011534376.1:n.-8G>T
NM_003057.3:c.569G>T MANE Select	NP_003048.1:p.Gly190Val
NM_153187.2:c.569G>T	NP_694857.1:p.Gly190Val