Canonical Allele Identifier: CA4138390

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4791193G>A , CM000669.2:g.4791193G>A	GRCh38
NC_000007.13:g.4830824G>A , CM000669.1:g.4830824G>A	GRCh37
NC_000007.12:g.4797350G>A	NCBI36
NG_028111.1:g.20563G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.2232G>A MANE Select	NP_055670.1:p.Ala744=
ENST00000649063.2:c.2232G>A MANE Select	ENSP00000497815.1:p.Ala744=
NM_001364858.1:c.1764G>A	NP_001351787.1:p.Ala588=
NM_014855.2:c.2232G>A	NP_055670.1:p.Ala744=
NR_157345.1:n.2363G>A
ENST00000348624.4:c.2232G>A	ENSP00000297562.4:p.Ala744=
ENST00000469614.1:n.1780G>A
ENST00000477680.5:n.2519G>A
ENST00000477680.6:n.2519G>A
ENST00000490487.1:n.383G>A
ENST00000496303.5:n.2541G>A
ENST00000496303.6:n.2060G>A
ENST00000647984.1:c.*1577G>A	ENSP00000497794.1:n.*1577G>A
ENST00000648237.1:c.383G>A
ENST00000648360.1:c.912G>A
ENST00000648925.1:c.*635G>A	ENSP00000496830.1:n.*635G>A
ENST00000649419.1:n.2111G>A
ENST00000649736.1:n.1095G>A
ENST00000650310.1:c.*803G>A	ENSP00000497395.1:n.*803G>A
ENST00000650581.1:c.764G>A