Canonical Allele Identifier: CA2598094870

Gene: APPL1

Linked Data

• gnomAD v3: 3-57229320-A-T
• gnomAD v4: 3-57229320-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229320A>T , CM000665.2:g.57229320A>T	GRCh38
NC_000003.11:g.57263348A>T , CM000665.1:g.57263348A>T	GRCh37
NC_000003.10:g.57238388A>T	NCBI36
NG_047003.1:g.6584A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1383A>T MANE Select	ENSP00000288266.3:n.54+1383A>T
ENST00000650354.1:c.54+1383A>T	ENSP00000498115.1:n.54+1383A>T
ENST00000288266.7:c.54+1383A>T	ENSP00000288266.3:n.54+1383A>T
ENST00000444459.1:c.-52+1383A>T	ENSP00000406095.1:n.-52+1383A>T
ENST00000468342.1:n.99+1383A>T
ENST00000482800.5:n.149+1383A>T
ENST00000495803.5:c.54+1383A>T	ENSP00000419644.1:n.54+1383A>T
NM_012096.2:c.54+1383A>T	NP_036228.1:n.54+1383A>T
XM_011533583.1:c.-52+1383A>T	XP_011531885.1:n.-52+1383A>T
XM_011533583.3:c.-52+1383A>T	XP_011531885.1:n.-52+1383A>T
NM_012096.3:c.54+1383A>T MANE Select	NP_036228.1:n.54+1383A>T