Canonical Allele Identifier: CA16044055
Gene: AP5Z1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375316
ClinVar RCV Id: RCV000416332
dbSNP Id: rs1057519342
gnomAD v4: 7-4789856-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.4789856C>T , CM000669.2:g.4789856C>T GRCh38
NC_000007.13:g.4829487C>T , CM000669.1:g.4829487C>T GRCh37
NC_000007.12:g.4796013C>T NCBI36
NG_028111.1:g.19226C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000477680.6:n.1490C>T
ENST00000496303.6:n.1560C>T
ENST00000647984.1:c.*1077C>T ENSP00000497794.1:n.*1077C>T
ENST00000648237.1:c.20C>T
ENST00000648360.1:c.342C>T
ENST00000648925.1:c.1732C>T ENSP00000496830.1:p.Gln578Ter
ENST00000649063.2:c.1732C>T MANE Select ENSP00000497815.1:p.Gln578Ter
ENST00000649315.1:c.1229C>T
ENST00000649419.1:n.1611C>T
ENST00000649736.1:n.595C>T
ENST00000650310.1:c.*303C>T ENSP00000497395.1:n.*303C>T
ENST00000650581.1:c.534C>T
ENST00000348624.4:c.1732C>T ENSP00000297562.4:p.Gln578Ter
ENST00000469614.1:n.751C>T
ENST00000477680.5:n.1490C>T
ENST00000490487.1:n.20C>T
ENST00000496303.5:n.1796C>T
NM_014855.2:c.1732C>T NP_055670.1:p.Gln578Ter
NM_001364858.1:c.1264C>T NP_001351787.1:p.Gln422Ter
NM_014855.3:c.1732C>T MANE Select NP_055670.1:p.Gln578Ter
NR_157345.1:n.1863C>T