Canonical Allele Identifier: CA4137882

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 240937
• ClinVar RCV Id: RCV000232141 ; RCV001847984 ; RCV003258712
• dbSNP Id: rs535174478
• ExAC: 7:4827915 G / A
• gnomAD v2: 7-4827915-G-A
• gnomAD v3: 7-4788284-G-A
• gnomAD v4: 7-4788284-G-A
• MyVariant Identifiers: chr7:g.4827915G>A (hg19) ; chr7:g.4788284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788284G>A , CM000669.2:g.4788284G>A	GRCh38
NC_000007.13:g.4827915G>A , CM000669.1:g.4827915G>A	GRCh37
NC_000007.12:g.4794441G>A	NCBI36
NG_028111.1:g.17654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.1343G>A
ENST00000496303.6:n.1413G>A
ENST00000647984.1:c.*930G>A	ENSP00000497794.1:n.*930G>A
ENST00000648360.1:c.195G>A
ENST00000648925.1:c.1585G>A	ENSP00000496830.1:p.Ala529Thr
ENST00000649063.2:c.1585G>A MANE Select	ENSP00000497815.1:p.Ala529Thr
ENST00000649315.1:c.1082G>A
ENST00000649419.1:n.1464G>A
ENST00000649736.1:n.448G>A
ENST00000650310.1:c.*156G>A	ENSP00000497395.1:n.*156G>A
ENST00000650581.1:c.387G>A
ENST00000348624.4:c.1585G>A	ENSP00000297562.4:p.Ala529Thr
ENST00000469614.1:n.59G>A
ENST00000477454.1:n.366G>A
ENST00000477680.5:n.1343G>A
ENST00000496303.5:n.1649G>A
NM_014855.2:c.1585G>A	NP_055670.1:p.Ala529Thr
XR_242109.1:n.1648G>A
NM_001364858.1:c.1117G>A	NP_001351787.1:p.Ala373Thr
NM_014855.3:c.1585G>A MANE Select	NP_055670.1:p.Ala529Thr
NR_157345.1:n.1716G>A