Canonical Allele Identifier: CA6436556

Gene: A2ML1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8868321C>T , CM000674.2:g.8868321C>T	GRCh38
NC_000012.11:g.9020917C>T , CM000674.1:g.9020917C>T	GRCh37
NC_000012.10:g.8912184C>T	NCBI36
NG_042857.1:g.50850C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144670.6:c.4025C>T MANE Select	NP_653271.3:p.Thr1342Ile
ENST00000299698.12:c.4025C>T MANE Select	ENSP00000299698.7:p.Thr1342Ile
NM_001282424.1:c.2552C>T	NP_001269353.1:p.Thr851Ile
NM_001282424.2:c.2552C>T	NP_001269353.1:p.Thr851Ile
NM_001282424.3:c.2552C>T	NP_001269353.2:p.Thr851Ile
NM_144670.4:c.4025C>T	NP_653271.2:p.Thr1342Ile
NM_144670.5:c.4025C>T	NP_653271.2:p.Thr1342Ile
ENST00000299698.11:c.4025C>T	ENSP00000299698.7:p.Thr1342Ile
ENST00000537475.1:c.207C>T
ENST00000539547.5:c.2552C>T	ENSP00000438292.1:p.Thr851Ile
ENST00000541459.5:c.2675C>T	ENSP00000443174.1:p.Thr892Ile
XM_011520566.1:c.4064C>T	XP_011518868.1:p.Thr1355Ile
XM_011520566.2:c.4064C>T	XP_011518868.1:p.Thr1355Ile
XM_011520567.1:c.4064C>T	XP_011518869.1:p.Thr1355Ile
XM_011520567.2:c.4064C>T	XP_011518869.1:p.Thr1355Ile
XM_017018868.1:c.4061C>T	XP_016874357.1:p.Thr1354Ile
XM_017018869.1:c.4061C>T	XP_016874358.1:p.Thr1354Ile
XM_017018870.1:c.4025C>T	XP_016874359.1:p.Thr1342Ile
XR_001748594.1:n.4123C>T
XR_931275.1:n.4162C>T