Canonical Allele Identifier: CA153021423

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4784287C>T , CM000669.2:g.4784287C>T	GRCh38
NC_000007.13:g.4823918C>T , CM000669.1:g.4823918C>T	GRCh37
NC_000007.12:g.4790444C>T	NCBI36
NG_028111.1:g.13657C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.706C>T MANE Select	NP_055670.1:p.Gln236Ter
ENST00000649063.2:c.706C>T MANE Select	ENSP00000497815.1:p.Gln236Ter
NM_001364858.1:c.238C>T	NP_001351787.1:p.Gln80Ter
NM_014855.2:c.706C>T	NP_055670.1:p.Gln236Ter
NR_157345.1:n.799C>T
ENST00000348624.4:c.706C>T	ENSP00000297562.4:p.Gln236Ter
ENST00000477680.5:n.464C>T
ENST00000477680.6:n.464C>T
ENST00000491375.1:n.561C>T
ENST00000496303.5:n.770C>T
ENST00000496303.6:n.534C>T
ENST00000647628.1:n.197C>T
ENST00000647984.1:c.*51C>T	ENSP00000497794.1:n.*51C>T
ENST00000648925.1:c.706C>T	ENSP00000496830.1:p.Gln236Ter
ENST00000650310.1:c.706C>T	ENSP00000497395.1:p.Gln236Ter
ENST00000650451.1:c.*51C>T	ENSP00000496998.1:n.*51C>T
XR_242109.1:n.731C>T