Canonical Allele Identifier: CA153036858

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4791250G>C , CM000669.2:g.4791250G>C	GRCh38
NC_000007.13:g.4830881G>C , CM000669.1:g.4830881G>C	GRCh37
NC_000007.12:g.4797407G>C	NCBI36
NG_028111.1:g.20620G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.2289G>C MANE Select	NP_055670.1:p.Val763=
ENST00000649063.2:c.2289G>C MANE Select	ENSP00000497815.1:p.Val763=
NM_001364858.1:c.1821G>C	NP_001351787.1:p.Val607=
NM_014855.2:c.2289G>C	NP_055670.1:p.Val763=
NR_157345.1:n.2420G>C
ENST00000348624.4:c.2289G>C	ENSP00000297562.4:p.Val763=
ENST00000469614.1:n.1837G>C
ENST00000477680.5:n.2576G>C
ENST00000477680.6:n.2576G>C
ENST00000490487.1:n.440G>C
ENST00000496303.5:n.2598G>C
ENST00000496303.6:n.2117G>C
ENST00000647984.1:c.*1634G>C	ENSP00000497794.1:n.*1634G>C
ENST00000648237.1:c.440G>C
ENST00000648360.1:c.969G>C
ENST00000648925.1:c.*692G>C	ENSP00000496830.1:n.*692G>C
ENST00000649419.1:n.2168G>C
ENST00000649736.1:n.1152G>C
ENST00000650310.1:c.*860G>C	ENSP00000497395.1:n.*860G>C
ENST00000650581.1:c.821G>C