Canonical Allele Identifier: CA11444130

Gene: APPL1

Linked Data

• dbSNP Id: rs4640525
• gnomAD v2: 3-57263394-G-C
• gnomAD v3: 3-57229366-G-C
• gnomAD v4: 3-57229366-G-C
• MyVariant Identifiers: chr3:g.57263394G>C (hg19) ; chr3:g.57229366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229366G>C , CM000665.2:g.57229366G>C	GRCh38
NC_000003.11:g.57263394G>C , CM000665.1:g.57263394G>C	GRCh37
NC_000003.10:g.57238434G>C	NCBI36
NG_047003.1:g.6630G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000288266.8:c.54+1429G>C MANE Select	ENSP00000288266.3:n.54+1429G>C
ENST00000650354.1:c.54+1429G>C	ENSP00000498115.1:n.54+1429G>C
ENST00000288266.7:c.54+1429G>C	ENSP00000288266.3:n.54+1429G>C
ENST00000444459.1:c.-51-1348G>C	ENSP00000406095.1:n.-51-1348G>C
ENST00000468342.1:n.99+1429G>C
ENST00000482800.5:n.149+1429G>C
ENST00000495803.5:c.54+1429G>C	ENSP00000419644.1:n.54+1429G>C
NM_012096.2:c.54+1429G>C	NP_036228.1:n.54+1429G>C
XM_011533583.1:c.-51-1348G>C	XP_011531885.1:n.-51-1348G>C
XM_011533583.3:c.-51-1348G>C	XP_011531885.1:n.-51-1348G>C
NM_012096.3:c.54+1429G>C MANE Select	NP_036228.1:n.54+1429G>C