Canonical Allele Identifier: CA4137764

Gene: AP5Z1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4787644G>A , CM000669.2:g.4787644G>A	GRCh38
NC_000007.13:g.4827275G>A , CM000669.1:g.4827275G>A	GRCh37
NC_000007.12:g.4793801G>A	NCBI36
NG_028111.1:g.17014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.1080G>A
ENST00000496303.6:n.1150G>A
ENST00000647984.1:c.*667G>A	ENSP00000497794.1:n.*667G>A
ENST00000648765.1:n.645G>A
ENST00000648925.1:c.1322G>A	ENSP00000496830.1:p.Trp441Ter
ENST00000649063.2:c.1322G>A MANE Select	ENSP00000497815.1:p.Trp441Ter
ENST00000649315.1:c.819G>A
ENST00000649419.1:n.1201G>A
ENST00000650310.1:c.1360G>A	ENSP00000497395.1:p.Gly454Arg
ENST00000650581.1:c.124G>A
ENST00000348624.4:c.1322G>A	ENSP00000297562.4:p.Trp441Ter
ENST00000477454.1:n.103G>A
ENST00000477680.5:n.1080G>A
ENST00000496303.5:n.1386G>A
NM_014855.2:c.1322G>A	NP_055670.1:p.Trp441Ter
XR_242109.1:n.1385G>A
NM_001364858.1:c.854G>A	NP_001351787.1:p.Trp285Ter
NM_014855.3:c.1322G>A MANE Select	NP_055670.1:p.Trp441Ter
NR_157345.1:n.1453G>A