Canonical Allele Identifier: CA4137835

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788163G>A , CM000669.2:g.4788163G>A	GRCh38
NC_000007.13:g.4827794G>A , CM000669.1:g.4827794G>A	GRCh37
NC_000007.12:g.4794320G>A	NCBI36
NG_028111.1:g.17533G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1464G>A MANE Select	NP_055670.1:p.Pro488=
ENST00000649063.2:c.1464G>A MANE Select	ENSP00000497815.1:p.Pro488=
NM_001364858.1:c.996G>A	NP_001351787.1:p.Pro332=
NM_014855.2:c.1464G>A	NP_055670.1:p.Pro488=
NR_157345.1:n.1595G>A
ENST00000348624.4:c.1464G>A	ENSP00000297562.4:p.Pro488=
ENST00000477454.1:n.245G>A
ENST00000477680.5:n.1222G>A
ENST00000477680.6:n.1222G>A
ENST00000496303.5:n.1528G>A
ENST00000496303.6:n.1292G>A
ENST00000647984.1:c.*809G>A	ENSP00000497794.1:n.*809G>A
ENST00000648360.1:c.74G>A
ENST00000648925.1:c.1464G>A	ENSP00000496830.1:p.Pro488=
ENST00000649315.1:c.961G>A
ENST00000649419.1:n.1343G>A
ENST00000649736.1:n.327G>A
ENST00000650310.1:c.*35G>A	ENSP00000497395.1:n.*35G>A
ENST00000650581.1:c.266G>A
XR_242109.1:n.1527G>A