Canonical Allele Identifier: CA6435999

Gene: A2ML1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8851916G>A , CM000674.2:g.8851916G>A	GRCh38
NC_000012.11:g.9004512G>A , CM000674.1:g.9004512G>A	GRCh37
NC_000012.10:g.8895779G>A	NCBI36
NG_042857.1:g.34445G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_144670.6:c.2367G>A MANE Select	NP_653271.3:p.Pro789=
ENST00000299698.12:c.2367G>A MANE Select	ENSP00000299698.7:p.Pro789=
NM_001282424.1:c.894G>A	NP_001269353.1:p.Pro298=
NM_001282424.2:c.894G>A	NP_001269353.1:p.Pro298=
NM_001282424.3:c.894G>A	NP_001269353.2:p.Pro298=
NM_144670.4:c.2367G>A	NP_653271.2:p.Pro789=
NM_144670.5:c.2367G>A	NP_653271.2:p.Pro789=
ENST00000299698.11:c.2367G>A	ENSP00000299698.7:p.Pro789=
ENST00000539547.5:c.894G>A	ENSP00000438292.1:p.Pro298=
ENST00000541459.5:c.1017G>A	ENSP00000443174.1:p.Pro339=
XM_011520566.1:c.2406G>A	XP_011518868.1:p.Pro802=
XM_011520566.2:c.2406G>A	XP_011518868.1:p.Pro802=
XM_011520567.1:c.2406G>A	XP_011518869.1:p.Pro802=
XM_011520567.2:c.2406G>A	XP_011518869.1:p.Pro802=
XM_017018868.1:c.2403G>A	XP_016874357.1:p.Pro801=
XM_017018869.1:c.2403G>A	XP_016874358.1:p.Pro801=
XM_017018870.1:c.2367G>A	XP_016874359.1:p.Pro789=
XR_001748594.1:n.2465G>A
XR_931275.1:n.2504G>A