Canonical Allele Identifier: CA4138236

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790688G>T , CM000669.2:g.4790688G>T	GRCh38
NC_000007.13:g.4830319G>T , CM000669.1:g.4830319G>T	GRCh37
NC_000007.12:g.4796845G>T	NCBI36
NG_028111.1:g.20058G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1954G>T MANE Select	NP_055670.1:p.Glu652Ter
ENST00000649063.2:c.1954G>T MANE Select	ENSP00000497815.1:p.Glu652Ter
NM_001364858.1:c.1486G>T	NP_001351787.1:p.Glu496Ter
NM_014855.2:c.1954G>T	NP_055670.1:p.Glu652Ter
NR_157345.1:n.2085G>T
ENST00000348624.4:c.1954G>T	ENSP00000297562.4:p.Glu652Ter
ENST00000469614.1:n.1502G>T
ENST00000477680.5:n.2241G>T
ENST00000477680.6:n.2241G>T
ENST00000490487.1:n.226+97G>T
ENST00000496303.5:n.2263G>T
ENST00000496303.6:n.1782G>T
ENST00000647984.1:c.*1299G>T	ENSP00000497794.1:n.*1299G>T
ENST00000648237.1:c.226+97G>T
ENST00000648360.1:c.634G>T
ENST00000648925.1:c.*357G>T	ENSP00000496830.1:n.*357G>T
ENST00000649315.1:c.1451G>T
ENST00000649419.1:n.1833G>T
ENST00000649736.1:n.817G>T
ENST00000650310.1:c.*525G>T	ENSP00000497395.1:n.*525G>T
ENST00000650581.1:c.608-122G>T