Canonical Allele Identifier: CA366663900

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790458G>C , CM000669.2:g.4790458G>C	GRCh38
NC_000007.13:g.4830089G>C , CM000669.1:g.4830089G>C	GRCh37
NC_000007.12:g.4796615G>C	NCBI36
NG_028111.1:g.19828G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1806-1G>C MANE Select	NP_055670.1:n.1806-1G>C
ENST00000649063.2:c.1806-1G>C MANE Select	ENSP00000497815.1:n.1806-1G>C
NM_001364858.1:c.1338-1G>C	NP_001351787.1:n.1338-1G>C
NM_014855.2:c.1806-1G>C	NP_055670.1:n.1806-1G>C
NR_157345.1:n.1937-1G>C
ENST00000348624.4:c.1806-1G>C	ENSP00000297562.4:n.1806-1G>C
ENST00000469614.1:n.1353G>C
ENST00000477680.5:n.2092G>C
ENST00000477680.6:n.2092G>C
ENST00000490487.1:n.94-1G>C
ENST00000496303.5:n.2114G>C
ENST00000496303.6:n.1634-1G>C
ENST00000647984.1:c.*1151-1G>C	ENSP00000497794.1:n.*1151-1G>C
ENST00000648237.1:c.94-1G>C
ENST00000648360.1:c.485G>C
ENST00000648925.1:c.*208G>C	ENSP00000496830.1:n.*208G>C
ENST00000649315.1:c.1303-1G>C
ENST00000649419.1:n.1685-1G>C
ENST00000649736.1:n.669-1G>C
ENST00000650310.1:c.*377-1G>C	ENSP00000497395.1:n.*377-1G>C
ENST00000650581.1:c.608-352G>C