Canonical Allele Identifier: CA1367098293
Gene: APPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.57229384C= , CM000665.2:g.57229384C= GRCh38
NC_000003.11:g.57263412C= , CM000665.1:g.57263412C= GRCh37
NC_000003.10:g.57238452C= NCBI36
NG_047003.1:g.6648C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288266.8:c.54+1447C= MANE Select ENSP00000288266.3:n.54+1447C=
ENST00000650354.1:c.54+1447C= ENSP00000498115.1:n.54+1447C=
ENST00000288266.7:c.54+1447C= ENSP00000288266.3:n.54+1447C=
ENST00000444459.1:c.-51-1330C= ENSP00000406095.1:n.-51-1330C=
ENST00000468342.1:n.99+1447C=
ENST00000482800.5:n.149+1447C=
ENST00000495803.5:c.54+1447C= ENSP00000419644.1:n.54+1447C=
NM_012096.2:c.54+1447C= NP_036228.1:n.54+1447C=
XM_011533583.1:c.-51-1330C= XP_011531885.1:n.-51-1330C=
XM_011533583.3:c.-51-1330C= XP_011531885.1:n.-51-1330C=
NM_012096.3:c.54+1447C= MANE Select NP_036228.1:n.54+1447C=