Canonical Allele Identifier: CA572434061

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4789937C>G , CM000669.2:g.4789937C>G	GRCh38
NC_000007.13:g.4829568C>G , CM000669.1:g.4829568C>G	GRCh37
NC_000007.12:g.4796094C>G	NCBI36
NG_028111.1:g.19307C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1805+8C>G MANE Select	NP_055670.1:n.1805+8C>G
ENST00000649063.2:c.1805+8C>G MANE Select	ENSP00000497815.1:n.1805+8C>G
NM_001364858.1:c.1337+8C>G	NP_001351787.1:n.1337+8C>G
NM_014855.2:c.1805+8C>G	NP_055670.1:n.1805+8C>G
NR_157345.1:n.1936+8C>G
ENST00000348624.4:c.1805+8C>G	ENSP00000297562.4:n.1805+8C>G
ENST00000469614.1:n.832C>G
ENST00000477680.5:n.1571C>G
ENST00000477680.6:n.1571C>G
ENST00000490487.1:n.93+8C>G
ENST00000496303.5:n.1869+8C>G
ENST00000496303.6:n.1633+8C>G
ENST00000647984.1:c.*1150+8C>G	ENSP00000497794.1:n.*1150+8C>G
ENST00000648237.1:c.93+8C>G
ENST00000648360.1:c.415+8C>G
ENST00000648925.1:c.1805+8C>G	ENSP00000496830.1:n.1805+8C>G
ENST00000649315.1:c.1302+8C>G
ENST00000649419.1:n.1684+8C>G
ENST00000649736.1:n.668+8C>G
ENST00000650310.1:c.*376+8C>G	ENSP00000497395.1:n.*376+8C>G
ENST00000650581.1:c.607+8C>G