Canonical Allele Identifier: CA4138241

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790699G>A , CM000669.2:g.4790699G>A	GRCh38
NC_000007.13:g.4830330G>A , CM000669.1:g.4830330G>A	GRCh37
NC_000007.12:g.4796856G>A	NCBI36
NG_028111.1:g.20069G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1965G>A MANE Select	NP_055670.1:p.Ser655=
ENST00000649063.2:c.1965G>A MANE Select	ENSP00000497815.1:p.Ser655=
NM_001364858.1:c.1497G>A	NP_001351787.1:p.Ser499=
NM_014855.2:c.1965G>A	NP_055670.1:p.Ser655=
NR_157345.1:n.2096G>A
ENST00000348624.4:c.1965G>A	ENSP00000297562.4:p.Ser655=
ENST00000469614.1:n.1513G>A
ENST00000477680.5:n.2252G>A
ENST00000477680.6:n.2252G>A
ENST00000490487.1:n.226+108G>A
ENST00000496303.5:n.2274G>A
ENST00000496303.6:n.1793G>A
ENST00000647984.1:c.*1310G>A	ENSP00000497794.1:n.*1310G>A
ENST00000648237.1:c.226+108G>A
ENST00000648360.1:c.645G>A
ENST00000648925.1:c.*368G>A	ENSP00000496830.1:n.*368G>A
ENST00000649315.1:c.1462G>A
ENST00000649419.1:n.1844G>A
ENST00000649736.1:n.828G>A
ENST00000650310.1:c.*536G>A	ENSP00000497395.1:n.*536G>A
ENST00000650581.1:c.608-111G>A