Canonical Allele Identifier: CA4138135

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790444C>T , CM000669.2:g.4790444C>T	GRCh38
NC_000007.13:g.4830075C>T , CM000669.1:g.4830075C>T	GRCh37
NC_000007.12:g.4796601C>T	NCBI36
NG_028111.1:g.19814C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1806-15C>T MANE Select	NP_055670.1:n.1806-15C>T
ENST00000649063.2:c.1806-15C>T MANE Select	ENSP00000497815.1:n.1806-15C>T
NM_001364858.1:c.1338-15C>T	NP_001351787.1:n.1338-15C>T
NM_014855.2:c.1806-15C>T	NP_055670.1:n.1806-15C>T
NR_157345.1:n.1937-15C>T
ENST00000348624.4:c.1806-15C>T	ENSP00000297562.4:n.1806-15C>T
ENST00000469614.1:n.1339C>T
ENST00000477680.5:n.2078C>T
ENST00000477680.6:n.2078C>T
ENST00000490487.1:n.94-15C>T
ENST00000496303.5:n.2100C>T
ENST00000496303.6:n.1634-15C>T
ENST00000647984.1:c.*1151-15C>T	ENSP00000497794.1:n.*1151-15C>T
ENST00000648237.1:c.94-15C>T
ENST00000648360.1:c.471C>T
ENST00000648925.1:c.*194C>T	ENSP00000496830.1:n.*194C>T
ENST00000649315.1:c.1303-15C>T
ENST00000649419.1:n.1685-15C>T
ENST00000649736.1:n.669-15C>T
ENST00000650310.1:c.*377-15C>T	ENSP00000497395.1:n.*377-15C>T
ENST00000650581.1:c.608-366C>T