Canonical Allele Identifier: CA4138009

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4789864G>A , CM000669.2:g.4789864G>A	GRCh38
NC_000007.13:g.4829495G>A , CM000669.1:g.4829495G>A	GRCh37
NC_000007.12:g.4796021G>A	NCBI36
NG_028111.1:g.19234G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1740G>A MANE Select	NP_055670.1:p.Ala580=
ENST00000649063.2:c.1740G>A MANE Select	ENSP00000497815.1:p.Ala580=
NM_001364858.1:c.1272G>A	NP_001351787.1:p.Ala424=
NM_014855.2:c.1740G>A	NP_055670.1:p.Ala580=
NR_157345.1:n.1871G>A
ENST00000348624.4:c.1740G>A	ENSP00000297562.4:p.Ala580=
ENST00000469614.1:n.759G>A
ENST00000477680.5:n.1498G>A
ENST00000477680.6:n.1498G>A
ENST00000490487.1:n.28G>A
ENST00000496303.5:n.1804G>A
ENST00000496303.6:n.1568G>A
ENST00000647984.1:c.*1085G>A	ENSP00000497794.1:n.*1085G>A
ENST00000648237.1:c.28G>A
ENST00000648360.1:c.350G>A
ENST00000648925.1:c.1740G>A	ENSP00000496830.1:p.Ala580=
ENST00000649315.1:c.1237G>A
ENST00000649419.1:n.1619G>A
ENST00000649736.1:n.603G>A
ENST00000650310.1:c.*311G>A	ENSP00000497395.1:n.*311G>A
ENST00000650581.1:c.542G>A