Canonical Allele Identifier: CA2702747652

Gene: APPL1

Linked Data

• dbSNP Id: rs2107593519

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229285T>A , CM000665.2:g.57229285T>A	GRCh38
NC_000003.11:g.57263313T>A , CM000665.1:g.57263313T>A	GRCh37
NC_000003.10:g.57238353T>A	NCBI36
NG_047003.1:g.6549T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1348T>A MANE Select	ENSP00000288266.3:n.54+1348T>A
ENST00000650354.1:c.54+1348T>A	ENSP00000498115.1:n.54+1348T>A
ENST00000288266.7:c.54+1348T>A	ENSP00000288266.3:n.54+1348T>A
ENST00000444459.1:c.-52+1348T>A	ENSP00000406095.1:n.-52+1348T>A
ENST00000468342.1:n.99+1348T>A
ENST00000482800.5:n.149+1348T>A
ENST00000495803.5:c.54+1348T>A	ENSP00000419644.1:n.54+1348T>A
NM_012096.2:c.54+1348T>A	NP_036228.1:n.54+1348T>A
XM_011533583.1:c.-52+1348T>A	XP_011531885.1:n.-52+1348T>A
XM_011533583.3:c.-52+1348T>A	XP_011531885.1:n.-52+1348T>A
NM_012096.3:c.54+1348T>A MANE Select	NP_036228.1:n.54+1348T>A