Canonical Allele Identifier: CA386375910

Gene: APPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189792T>G , CM000674.2:g.105189792T>G	GRCh38
NC_000012.11:g.105583570T>G , CM000674.1:g.105583570T>G	GRCh37
NC_000012.10:g.104107700T>G	NCBI36
NG_030419.1:g.51439A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018171.5:c.1439A>C MANE Select	NP_060641.2:p.Glu480Ala
ENST00000258530.8:c.1439A>C MANE Select	ENSP00000258530.3:p.Glu480Ala
NM_001251904.1:c.1457A>C	NP_001238833.1:p.Glu486Ala
NM_001251904.2:c.1457A>C	NP_001238833.1:p.Glu486Ala
NM_001251905.1:c.1310A>C	NP_001238834.1:p.Glu437Ala
NM_001251905.2:c.1310A>C	NP_001238834.1:p.Glu437Ala
NM_018171.3:c.1439A>C	NP_060641.2:p.Glu480Ala
NM_018171.4:c.1439A>C	NP_060641.2:p.Glu480Ala
ENST00000258530.7:c.1439A>C	ENSP00000258530.3:p.Glu480Ala
ENST00000539978.6:c.1310A>C	ENSP00000444472.2:p.Glu437Ala
ENST00000547439.5:c.*724A>C	ENSP00000449410.1:n.*724A>C
ENST00000547809.5:n.1449A>C
ENST00000551662.5:c.1457A>C	ENSP00000446917.1:p.Glu486Ala
ENST00000552945.1:n.279A>C
ENST00000553109.1:c.83A>C	ENSP00000446510.1:p.Glu28Ala
XM_006719472.1:c.1457A>C	XP_006719535.1:p.Glu486Ala
XM_011538530.1:c.1418A>C	XP_011536832.1:p.Glu473Ala
XM_011538530.3:c.1418A>C	XP_011536832.1:p.Glu473Ala
XM_011538531.1:c.1328A>C	XP_011536833.1:p.Glu443Ala
XM_011538531.3:c.1328A>C	XP_011536833.1:p.Glu443Ala
XM_011538532.1:c.1328A>C	XP_011536834.1:p.Glu443Ala
XM_011538532.3:c.1328A>C	XP_011536834.1:p.Glu443Ala
XM_017019551.2:c.1400A>C	XP_016875040.1:p.Glu467Ala
XM_017019552.2:c.1310A>C	XP_016875041.1:p.Glu437Ala
XM_017019553.2:c.1310A>C	XP_016875042.1:p.Glu437Ala
XM_017019554.1:c.1439A>C	XP_016875043.1:p.Glu480Ala
XR_001748795.1:n.1619A>C
XR_001748796.1:n.1601A>C