Canonical Allele Identifier: CA1367098230

Gene: APPL1

Linked Data

• dbSNP Id: rs2060672031

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229283T>C , CM000665.2:g.57229283T>C	GRCh38
NC_000003.11:g.57263311T>C , CM000665.1:g.57263311T>C	GRCh37
NC_000003.10:g.57238351T>C	NCBI36
NG_047003.1:g.6547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1346T>C MANE Select	ENSP00000288266.3:n.54+1346T>C
ENST00000650354.1:c.54+1346T>C	ENSP00000498115.1:n.54+1346T>C
ENST00000288266.7:c.54+1346T>C	ENSP00000288266.3:n.54+1346T>C
ENST00000444459.1:c.-52+1346T>C	ENSP00000406095.1:n.-52+1346T>C
ENST00000468342.1:n.99+1346T>C
ENST00000482800.5:n.149+1346T>C
ENST00000495803.5:c.54+1346T>C	ENSP00000419644.1:n.54+1346T>C
NM_012096.2:c.54+1346T>C	NP_036228.1:n.54+1346T>C
XM_011533583.1:c.-52+1346T>C	XP_011531885.1:n.-52+1346T>C
XM_011533583.3:c.-52+1346T>C	XP_011531885.1:n.-52+1346T>C
NM_012096.3:c.54+1346T>C MANE Select	NP_036228.1:n.54+1346T>C