Canonical Allele Identifier: CA453630180

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790885C>T , CM000669.2:g.4790885C>T	GRCh38
NC_000007.13:g.4830516C>T , CM000669.1:g.4830516C>T	GRCh37
NC_000007.12:g.4797042C>T	NCBI36
NG_028111.1:g.20255C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.2151C>T MANE Select	NP_055670.1:p.Pro717=
ENST00000649063.2:c.2151C>T MANE Select	ENSP00000497815.1:p.Pro717=
NM_001364858.1:c.1683C>T	NP_001351787.1:p.Pro561=
NM_014855.2:c.2151C>T	NP_055670.1:p.Pro717=
NR_157345.1:n.2282C>T
ENST00000348624.4:c.2151C>T	ENSP00000297562.4:p.Pro717=
ENST00000469614.1:n.1699C>T
ENST00000477680.5:n.2438C>T
ENST00000477680.6:n.2438C>T
ENST00000490487.1:n.302C>T
ENST00000496303.5:n.2460C>T
ENST00000496303.6:n.1979C>T
ENST00000647984.1:c.*1496C>T	ENSP00000497794.1:n.*1496C>T
ENST00000648237.1:c.302C>T
ENST00000648360.1:c.831C>T
ENST00000648925.1:c.*554C>T	ENSP00000496830.1:n.*554C>T
ENST00000649315.1:c.1648C>T
ENST00000649419.1:n.2030C>T
ENST00000649736.1:n.1014C>T
ENST00000650310.1:c.*722C>T	ENSP00000497395.1:n.*722C>T
ENST00000650581.1:c.683C>T