Canonical Allele Identifier: CA4138189

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 360340
• ClinVar RCV Id: RCV000352753 ; RCV001848709 ; RCV003970056 ; RCV003480620
• dbSNP Id: rs200280538
• ExAC: 7:4830220 G / A
• gnomAD v2: 7-4830220-G-A
• gnomAD v3: 7-4790589-G-A
• gnomAD v4: 7-4790589-G-A
• MyVariant Identifiers: chr7:g.4830220G>A (hg19) ; chr7:g.4790589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790589G>A , CM000669.2:g.4790589G>A	GRCh38
NC_000007.13:g.4830220G>A , CM000669.1:g.4830220G>A	GRCh37
NC_000007.12:g.4796746G>A	NCBI36
NG_028111.1:g.19959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.2223G>A
ENST00000496303.6:n.1764G>A
ENST00000647984.1:c.*1281G>A	ENSP00000497794.1:n.*1281G>A
ENST00000648237.1:c.224G>A
ENST00000648360.1:c.616G>A
ENST00000648925.1:c.*339G>A	ENSP00000496830.1:n.*339G>A
ENST00000649063.2:c.1936G>A MANE Select	ENSP00000497815.1:p.Val646Met
ENST00000649315.1:c.1433G>A
ENST00000649419.1:n.1815G>A
ENST00000649736.1:n.799G>A
ENST00000650310.1:c.*507G>A	ENSP00000497395.1:n.*507G>A
ENST00000650581.1:c.608-221G>A
ENST00000348624.4:c.1936G>A	ENSP00000297562.4:p.Val646Met
ENST00000469614.1:n.1484G>A
ENST00000477680.5:n.2223G>A
ENST00000490487.1:n.224G>A
ENST00000496303.5:n.2245G>A
NM_014855.2:c.1936G>A	NP_055670.1:p.Val646Met
NM_001364858.1:c.1468G>A	NP_001351787.1:p.Val490Met
NM_014855.3:c.1936G>A MANE Select	NP_055670.1:p.Val646Met
NR_157345.1:n.2067G>A