Canonical Allele Identifier: CA10629162

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 360347
• ClinVar RCV Id: RCV000324706 ; RCV003311784
• dbSNP Id: rs112283999
• gnomAD v2: 7-4831108-G-A
• gnomAD v3: 7-4791477-G-A
• gnomAD v4: 7-4791477-G-A
• MyVariant Identifiers: chr7:g.4831108G>A (hg19) ; chr7:g.4791477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4791477G>A , CM000669.2:g.4791477G>A	GRCh38
NC_000007.13:g.4831108G>A , CM000669.1:g.4831108G>A	GRCh37
NC_000007.12:g.4797634G>A	NCBI36
NG_028111.1:g.20847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.2803G>A
ENST00000496303.6:n.2344G>A
ENST00000647984.1:c.*1861G>A	ENSP00000497794.1:n.*1861G>A
ENST00000648237.1:c.667G>A
ENST00000648360.1:c.1196G>A
ENST00000648925.1:c.*919G>A	ENSP00000496830.1:n.*919G>A
ENST00000649063.2:c.*92G>A MANE Select	ENSP00000497815.1:n.*92G>A
ENST00000649419.1:n.2395G>A
ENST00000649736.1:n.1379G>A
ENST00000650310.1:c.*1087G>A	ENSP00000497395.1:n.*1087G>A
ENST00000650581.1:c.1048G>A
ENST00000348624.4:c.*92G>A	ENSP00000297562.4:n.*92G>A
ENST00000469614.1:n.2064G>A
ENST00000477680.5:n.2803G>A
ENST00000490487.1:n.667G>A
ENST00000496303.5:n.2825G>A
NM_014855.2:c.*92G>A	NP_055670.1:n.*92G>A
NM_001364858.1:c.*92G>A	NP_001351787.1:n.*92G>A
NM_014855.3:c.*92G>A MANE Select	NP_055670.1:n.*92G>A
NR_157345.1:n.2647G>A