Canonical Allele Identifier: CA1048310821

Gene: APPL1

Linked Data

• dbSNP Id: rs2060672364
• gnomAD v3: 3-57229326-C-T
• gnomAD v4: 3-57229326-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57229326C>T , CM000665.2:g.57229326C>T	GRCh38
NC_000003.11:g.57263354C>T , CM000665.1:g.57263354C>T	GRCh37
NC_000003.10:g.57238394C>T	NCBI36
NG_047003.1:g.6590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288266.8:c.54+1389C>T MANE Select	ENSP00000288266.3:n.54+1389C>T
ENST00000650354.1:c.54+1389C>T	ENSP00000498115.1:n.54+1389C>T
ENST00000288266.7:c.54+1389C>T	ENSP00000288266.3:n.54+1389C>T
ENST00000444459.1:c.-51-1388C>T	ENSP00000406095.1:n.-51-1388C>T
ENST00000468342.1:n.99+1389C>T
ENST00000482800.5:n.149+1389C>T
ENST00000495803.5:c.54+1389C>T	ENSP00000419644.1:n.54+1389C>T
NM_012096.2:c.54+1389C>T	NP_036228.1:n.54+1389C>T
XM_011533583.1:c.-51-1388C>T	XP_011531885.1:n.-51-1388C>T
XM_011533583.3:c.-51-1388C>T	XP_011531885.1:n.-51-1388C>T
NM_012096.3:c.54+1389C>T MANE Select	NP_036228.1:n.54+1389C>T