Canonical Allele Identifier: CA4137261

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4783717G>A , CM000669.2:g.4783717G>A	GRCh38
NC_000007.13:g.4823348G>A , CM000669.1:g.4823348G>A	GRCh37
NC_000007.12:g.4789874G>A	NCBI36
NG_028111.1:g.13087G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.540G>A MANE Select	NP_055670.1:p.Leu180=
ENST00000649063.2:c.540G>A MANE Select	ENSP00000497815.1:p.Leu180=
NM_001364858.1:c.72G>A	NP_001351787.1:p.Leu24=
NM_014855.2:c.540G>A	NP_055670.1:p.Leu180=
NR_157345.1:n.633G>A
ENST00000348624.4:c.540G>A	ENSP00000297562.4:p.Leu180=
ENST00000477680.5:n.298G>A
ENST00000477680.6:n.298G>A
ENST00000491375.1:n.395G>A
ENST00000496303.5:n.604G>A
ENST00000496303.6:n.368G>A
ENST00000647628.1:n.31G>A
ENST00000647984.1:c.353G>A	ENSP00000497794.1:p.Trp118Ter
ENST00000648925.1:c.540G>A	ENSP00000496830.1:p.Leu180=
ENST00000650310.1:c.540G>A	ENSP00000497395.1:p.Leu180=
ENST00000650451.1:c.180-486G>A	ENSP00000496998.1:n.180-486G>A
XR_242109.1:n.565G>A