Canonical Allele Identifier: CA4137881

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788283C>T , CM000669.2:g.4788283C>T	GRCh38
NC_000007.13:g.4827914C>T , CM000669.1:g.4827914C>T	GRCh37
NC_000007.12:g.4794440C>T	NCBI36
NG_028111.1:g.17653C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1584C>T MANE Select	NP_055670.1:p.Gly528=
ENST00000649063.2:c.1584C>T MANE Select	ENSP00000497815.1:p.Gly528=
NM_001364858.1:c.1116C>T	NP_001351787.1:p.Gly372=
NM_014855.2:c.1584C>T	NP_055670.1:p.Gly528=
NR_157345.1:n.1715C>T
ENST00000348624.4:c.1584C>T	ENSP00000297562.4:p.Gly528=
ENST00000469614.1:n.58C>T
ENST00000477454.1:n.365C>T
ENST00000477680.5:n.1342C>T
ENST00000477680.6:n.1342C>T
ENST00000496303.5:n.1648C>T
ENST00000496303.6:n.1412C>T
ENST00000647984.1:c.*929C>T	ENSP00000497794.1:n.*929C>T
ENST00000648360.1:c.194C>T
ENST00000648925.1:c.1584C>T	ENSP00000496830.1:p.Gly528=
ENST00000649315.1:c.1081C>T
ENST00000649419.1:n.1463C>T
ENST00000649736.1:n.447C>T
ENST00000650310.1:c.*155C>T	ENSP00000497395.1:n.*155C>T
ENST00000650581.1:c.386C>T
XR_242109.1:n.1647C>T