Canonical Allele Identifier: CA383832319

Gene: A2ML1

Linked Data

• dbSNP Id: rs1943843473
• MyVariant Identifiers: chr12:g.9002835C>A (hg19) ; chr12:g.8850239C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8850239C>A , CM000674.2:g.8850239C>A	GRCh38
NC_000012.11:g.9002835C>A , CM000674.1:g.9002835C>A	GRCh37
NC_000012.10:g.8894102C>A	NCBI36
NG_042857.1:g.32768C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.2199C>A MANE Select	ENSP00000299698.7:p.Phe733Leu
ENST00000299698.11:c.2199C>A	ENSP00000299698.7:p.Phe733Leu
ENST00000539547.5:c.726C>A	ENSP00000438292.1:p.Phe242Leu
ENST00000541459.5:c.849C>A	ENSP00000443174.1:p.Phe283Leu
NM_001282424.1:c.726C>A	NP_001269353.1:p.Phe242Leu
NM_001282424.2:c.726C>A	NP_001269353.1:p.Phe242Leu
NM_144670.4:c.2199C>A	NP_653271.2:p.Phe733Leu
NM_144670.5:c.2199C>A	NP_653271.2:p.Phe733Leu
XM_011520566.1:c.2238C>A	XP_011518868.1:p.Phe746Leu
XM_011520567.1:c.2238C>A	XP_011518869.1:p.Phe746Leu
XR_931275.1:n.2336C>A
XM_011520566.2:c.2238C>A	XP_011518868.1:p.Phe746Leu
XM_011520567.2:c.2238C>A	XP_011518869.1:p.Phe746Leu
XM_017018868.1:c.2235C>A	XP_016874357.1:p.Phe745Leu
XM_017018869.1:c.2235C>A	XP_016874358.1:p.Phe745Leu
XM_017018870.1:c.2199C>A	XP_016874359.1:p.Phe733Leu
XR_001748594.1:n.2297C>A
NM_144670.6:c.2199C>A MANE Select	NP_653271.3:p.Phe733Leu
NM_001282424.3:c.726C>A	NP_001269353.2:p.Phe242Leu