Canonical Allele Identifier: CA1367098279
Gene: APPL1 HGNC NCBI

Linked Data

dbSNP Id: rs4640525
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Genomic Alleles

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

Transcript Alleles

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