Canonical Allele Identifier: CA6435936

Gene: A2ML1

Linked Data

• ClinVar Variation Id: 384690
• ClinVar RCV Id: RCV000437059 ; RCV001261816 ; RCV002307496 ; RCV000768665 ; RCV003942382
• dbSNP Id: rs117213221
• ExAC: 12:9002833 T / C
• gnomAD v2: 12-9002833-T-C
• gnomAD v3: 12-8850237-T-C
• gnomAD v4: 12-8850237-T-C
• MyVariant Identifiers: chr12:g.9002833T>C (hg19) ; chr12:g.8850237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8850237T>C , CM000674.2:g.8850237T>C	GRCh38
NC_000012.11:g.9002833T>C , CM000674.1:g.9002833T>C	GRCh37
NC_000012.10:g.8894100T>C	NCBI36
NG_042857.1:g.32766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.2197T>C MANE Select	ENSP00000299698.7:p.Phe733Leu
ENST00000299698.11:c.2197T>C	ENSP00000299698.7:p.Phe733Leu
ENST00000539547.5:c.724T>C	ENSP00000438292.1:p.Phe242Leu
ENST00000541459.5:c.847T>C	ENSP00000443174.1:p.Phe283Leu
NM_001282424.1:c.724T>C	NP_001269353.1:p.Phe242Leu
NM_001282424.2:c.724T>C	NP_001269353.1:p.Phe242Leu
NM_144670.4:c.2197T>C	NP_653271.2:p.Phe733Leu
NM_144670.5:c.2197T>C	NP_653271.2:p.Phe733Leu
XM_011520566.1:c.2236T>C	XP_011518868.1:p.Phe746Leu
XM_011520567.1:c.2236T>C	XP_011518869.1:p.Phe746Leu
XR_931275.1:n.2334T>C
XM_011520566.2:c.2236T>C	XP_011518868.1:p.Phe746Leu
XM_011520567.2:c.2236T>C	XP_011518869.1:p.Phe746Leu
XM_017018868.1:c.2233T>C	XP_016874357.1:p.Phe745Leu
XM_017018869.1:c.2233T>C	XP_016874358.1:p.Phe745Leu
XM_017018870.1:c.2197T>C	XP_016874359.1:p.Phe733Leu
XR_001748594.1:n.2295T>C
NM_144670.6:c.2197T>C MANE Select	NP_653271.3:p.Phe733Leu
NM_001282424.3:c.724T>C	NP_001269353.2:p.Phe242Leu