Canonical Allele Identifier: CA4138161

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 417165
• ClinVar RCV Id: RCV001162875
• dbSNP Id: rs780422345
• ExAC: 7:4830147 G / A
• gnomAD v2: 7-4830147-G-A
• gnomAD v3: 7-4790516-G-A
• gnomAD v4: 7-4790516-G-A
• MyVariant Identifiers: chr7:g.4830147G>A (hg19) ; chr7:g.4790516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790516G>A , CM000669.2:g.4790516G>A	GRCh38
NC_000007.13:g.4830147G>A , CM000669.1:g.4830147G>A	GRCh37
NC_000007.12:g.4796673G>A	NCBI36
NG_028111.1:g.19886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.2150G>A
ENST00000496303.6:n.1691G>A
ENST00000647984.1:c.*1208G>A	ENSP00000497794.1:n.*1208G>A
ENST00000648237.1:c.151G>A
ENST00000648360.1:c.543G>A
ENST00000648925.1:c.*266G>A	ENSP00000496830.1:n.*266G>A
ENST00000649063.2:c.1863G>A MANE Select	ENSP00000497815.1:p.Glu621=
ENST00000649315.1:c.1360G>A
ENST00000649419.1:n.1742G>A
ENST00000649736.1:n.726G>A
ENST00000650310.1:c.*434G>A	ENSP00000497395.1:n.*434G>A
ENST00000650581.1:c.608-294G>A
ENST00000348624.4:c.1863G>A	ENSP00000297562.4:p.Glu621=
ENST00000469614.1:n.1411G>A
ENST00000477680.5:n.2150G>A
ENST00000490487.1:n.151G>A
ENST00000496303.5:n.2172G>A
NM_014855.2:c.1863G>A	NP_055670.1:p.Glu621=
NM_001364858.1:c.1395G>A	NP_001351787.1:p.Glu465=
NM_014855.3:c.1863G>A MANE Select	NP_055670.1:p.Glu621=
NR_157345.1:n.1994G>A