Canonical Allele Identifier: CA4083773

Gene: SLC22A1

Linked Data

• dbSNP Id: rs36103319
• ExAC: 6:160553407 G / T
• gnomAD v2: 6-160553407-G-T
• gnomAD v3: 6-160132375-G-T
• gnomAD v4: 6-160132375-G-T
• MyVariant Identifiers: chr6:g.160553407G>T (hg19) ; chr6:g.160132375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160132375G>T , CM000668.2:g.160132375G>T	GRCh38
NC_000006.11:g.160553407G>T , CM000668.1:g.160553407G>T	GRCh37
NC_000006.10:g.160473397G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366963.9:c.659G>T MANE Select	ENSP00000355930.4:p.Gly220Val
ENST00000324965.8:c.659G>T	ENSP00000318103.4:p.Gly220Val
ENST00000366963.8:c.659G>T	ENSP00000355930.4:p.Gly220Val
ENST00000457470.6:c.659G>T	ENSP00000409557.2:p.Gly220Val
ENST00000460902.2:c.659G>T	ENSP00000439274.1:p.Gly220Val
ENST00000539263.5:c.*132G>T	ENSP00000443245.1:n.*132G>T
ENST00000540443.1:c.83G>T	ENSP00000440105.1:p.Gly28Val
NM_003057.2:c.659G>T	NP_003048.1:p.Gly220Val
NM_153187.1:c.659G>T	NP_694857.1:p.Gly220Val
XM_005267102.3:c.659G>T	XP_005267159.1:p.Gly220Val
XM_005267103.1:c.659G>T	XP_005267160.1:p.Gly220Val
XM_005267104.3:c.83G>T	XP_005267161.1:p.Gly28Val
XM_005267105.3:c.83G>T	XP_005267162.1:p.Gly28Val
XM_006715552.1:c.659G>T	XP_006715615.1:p.Gly220Val
XM_011536074.1:c.83G>T	XP_011534376.1:p.Gly28Val
XM_005267102.5:c.659G>T	XP_005267159.1:p.Gly220Val
XM_005267103.2:c.659G>T	XP_005267160.1:p.Gly220Val
XM_005267104.5:c.83G>T	XP_005267161.1:p.Gly28Val
XM_005267105.5:c.83G>T	XP_005267162.1:p.Gly28Val
XM_006715552.2:c.659G>T	XP_006715615.1:p.Gly220Val
XM_011536074.3:c.83G>T	XP_011534376.1:p.Gly28Val
NM_003057.3:c.659G>T MANE Select	NP_003048.1:p.Gly220Val
NM_153187.2:c.659G>T	NP_694857.1:p.Gly220Val