Canonical Allele Identifier: CA4137942

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788861G>C , CM000669.2:g.4788861G>C	GRCh38
NC_000007.13:g.4828492G>C , CM000669.1:g.4828492G>C	GRCh37
NC_000007.12:g.4795018G>C	NCBI36
NG_028111.1:g.18231G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1617G>C MANE Select	NP_055670.1:p.Leu539=
ENST00000649063.2:c.1617G>C MANE Select	ENSP00000497815.1:p.Leu539=
NM_001364858.1:c.1149G>C	NP_001351787.1:p.Leu383=
NM_014855.2:c.1617G>C	NP_055670.1:p.Leu539=
NR_157345.1:n.1748G>C
ENST00000348624.4:c.1617G>C	ENSP00000297562.4:p.Leu539=
ENST00000469614.1:n.636G>C
ENST00000477454.1:n.398G>C
ENST00000477680.5:n.1375G>C
ENST00000477680.6:n.1375G>C
ENST00000496303.5:n.1681G>C
ENST00000496303.6:n.1445G>C
ENST00000647984.1:c.*962G>C	ENSP00000497794.1:n.*962G>C
ENST00000648360.1:c.227G>C
ENST00000648925.1:c.1617G>C	ENSP00000496830.1:p.Leu539=
ENST00000649315.1:c.1114G>C
ENST00000649419.1:n.1496G>C
ENST00000649736.1:n.480G>C
ENST00000650310.1:c.*188G>C	ENSP00000497395.1:n.*188G>C
ENST00000650581.1:c.419G>C
XR_242109.1:n.1680G>C