Canonical Allele Identifier: CA4138023

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4789909G>T , CM000669.2:g.4789909G>T	GRCh38
NC_000007.13:g.4829540G>T , CM000669.1:g.4829540G>T	GRCh37
NC_000007.12:g.4796066G>T	NCBI36
NG_028111.1:g.19279G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1785G>T MANE Select	NP_055670.1:p.Gly595=
ENST00000649063.2:c.1785G>T MANE Select	ENSP00000497815.1:p.Gly595=
NM_001364858.1:c.1317G>T	NP_001351787.1:p.Gly439=
NM_014855.2:c.1785G>T	NP_055670.1:p.Gly595=
NR_157345.1:n.1916G>T
ENST00000348624.4:c.1785G>T	ENSP00000297562.4:p.Gly595=
ENST00000469614.1:n.804G>T
ENST00000477680.5:n.1543G>T
ENST00000477680.6:n.1543G>T
ENST00000490487.1:n.73G>T
ENST00000496303.5:n.1849G>T
ENST00000496303.6:n.1613G>T
ENST00000647984.1:c.*1130G>T	ENSP00000497794.1:n.*1130G>T
ENST00000648237.1:c.73G>T
ENST00000648360.1:c.395G>T
ENST00000648925.1:c.1785G>T	ENSP00000496830.1:p.Gly595=
ENST00000649315.1:c.1282G>T
ENST00000649419.1:n.1664G>T
ENST00000649736.1:n.648G>T
ENST00000650310.1:c.*356G>T	ENSP00000497395.1:n.*356G>T
ENST00000650581.1:c.587G>T