Canonical Allele Identifier: CA366662851

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4787645G>A , CM000669.2:g.4787645G>A	GRCh38
NC_000007.13:g.4827276G>A , CM000669.1:g.4827276G>A	GRCh37
NC_000007.12:g.4793802G>A	NCBI36
NG_028111.1:g.17015G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1323G>A MANE Select	NP_055670.1:p.Trp441Ter
ENST00000649063.2:c.1323G>A MANE Select	ENSP00000497815.1:p.Trp441Ter
NM_001364858.1:c.855G>A	NP_001351787.1:p.Trp285Ter
NM_014855.2:c.1323G>A	NP_055670.1:p.Trp441Ter
NR_157345.1:n.1454G>A
ENST00000348624.4:c.1323G>A	ENSP00000297562.4:p.Trp441Ter
ENST00000477454.1:n.104G>A
ENST00000477680.5:n.1081G>A
ENST00000477680.6:n.1081G>A
ENST00000496303.5:n.1387G>A
ENST00000496303.6:n.1151G>A
ENST00000647984.1:c.*668G>A	ENSP00000497794.1:n.*668G>A
ENST00000648765.1:n.646G>A
ENST00000648925.1:c.1323G>A	ENSP00000496830.1:p.Trp441Ter
ENST00000649315.1:c.820G>A
ENST00000649419.1:n.1202G>A
ENST00000650310.1:c.1361G>A	ENSP00000497395.1:p.Gly454Glu
ENST00000650581.1:c.125G>A
XR_242109.1:n.1386G>A