Canonical Allele Identifier: CA4137762
Gene: AP5Z1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360325
dbSNP Id: rs113014863
gnomAD v2: 7-4827268-C-T
gnomAD v3: 7-4787637-C-T
gnomAD v4: 7-4787637-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.4787637C>T , CM000669.2:g.4787637C>T GRCh38
NC_000007.13:g.4827268C>T , CM000669.1:g.4827268C>T GRCh37
NC_000007.12:g.4793794C>T NCBI36
NG_028111.1:g.17007C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000477680.6:n.1073C>T
ENST00000496303.6:n.1143C>T
ENST00000647984.1:c.*660C>T ENSP00000497794.1:n.*660C>T
ENST00000648765.1:n.638C>T
ENST00000648925.1:c.1315C>T ENSP00000496830.1:p.Leu439=
ENST00000649063.2:c.1315C>T MANE Select ENSP00000497815.1:p.Leu439=
ENST00000649315.1:c.812C>T
ENST00000649419.1:n.1194C>T
ENST00000650310.1:c.1353C>T ENSP00000497395.1:p.Ser451=
ENST00000650581.1:c.117C>T
ENST00000348624.4:c.1315C>T ENSP00000297562.4:p.Leu439=
ENST00000477454.1:n.96C>T
ENST00000477680.5:n.1073C>T
ENST00000496303.5:n.1379C>T
NM_014855.2:c.1315C>T NP_055670.1:p.Leu439=
XR_242109.1:n.1378C>T
NM_001364858.1:c.847C>T NP_001351787.1:p.Leu283=
NM_014855.3:c.1315C>T MANE Select NP_055670.1:p.Leu439=
NR_157345.1:n.1446C>T