Canonical Allele Identifier: CA4138422

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4791266A>G , CM000669.2:g.4791266A>G	GRCh38
NC_000007.13:g.4830897A>G , CM000669.1:g.4830897A>G	GRCh37
NC_000007.12:g.4797423A>G	NCBI36
NG_028111.1:g.20636A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.2305A>G MANE Select	NP_055670.1:p.Thr769Ala
ENST00000649063.2:c.2305A>G MANE Select	ENSP00000497815.1:p.Thr769Ala
NM_001364858.1:c.1837A>G	NP_001351787.1:p.Thr613Ala
NM_014855.2:c.2305A>G	NP_055670.1:p.Thr769Ala
NR_157345.1:n.2436A>G
ENST00000348624.4:c.2305A>G	ENSP00000297562.4:p.Thr769Ala
ENST00000469614.1:n.1853A>G
ENST00000477680.5:n.2592A>G
ENST00000477680.6:n.2592A>G
ENST00000490487.1:n.456A>G
ENST00000496303.5:n.2614A>G
ENST00000496303.6:n.2133A>G
ENST00000647984.1:c.*1650A>G	ENSP00000497794.1:n.*1650A>G
ENST00000648237.1:c.456A>G
ENST00000648360.1:c.985A>G
ENST00000648925.1:c.*708A>G	ENSP00000496830.1:n.*708A>G
ENST00000649419.1:n.2184A>G
ENST00000649736.1:n.1168A>G
ENST00000650310.1:c.*876A>G	ENSP00000497395.1:n.*876A>G
ENST00000650581.1:c.837A>G