Canonical Allele Identifier: CA75381742

Gene: APPL1

Linked Data

• dbSNP Id: rs1017747577
• gnomAD v3: 3-57229343-C-G
• gnomAD v4: 3-57229343-C-G
• MyVariant Identifiers: chr3:g.57263371C>G (hg19) ; chr3:g.57229343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229343C>G , CM000665.2:g.57229343C>G	GRCh38
NC_000003.11:g.57263371C>G , CM000665.1:g.57263371C>G	GRCh37
NC_000003.10:g.57238411C>G	NCBI36
NG_047003.1:g.6607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1406C>G MANE Select	ENSP00000288266.3:n.54+1406C>G
ENST00000650354.1:c.54+1406C>G	ENSP00000498115.1:n.54+1406C>G
ENST00000288266.7:c.54+1406C>G	ENSP00000288266.3:n.54+1406C>G
ENST00000444459.1:c.-51-1371C>G	ENSP00000406095.1:n.-51-1371C>G
ENST00000468342.1:n.99+1406C>G
ENST00000482800.5:n.149+1406C>G
ENST00000495803.5:c.54+1406C>G	ENSP00000419644.1:n.54+1406C>G
NM_012096.2:c.54+1406C>G	NP_036228.1:n.54+1406C>G
XM_011533583.1:c.-51-1371C>G	XP_011531885.1:n.-51-1371C>G
XM_011533583.3:c.-51-1371C>G	XP_011531885.1:n.-51-1371C>G
NM_012096.3:c.54+1406C>G MANE Select	NP_036228.1:n.54+1406C>G