Canonical Allele Identifier: CA4137222

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 240943
• ClinVar RCV Id: RCV000233083 ; RCV001079083 ; RCV001847987 ; RCV003929988
• dbSNP Id: rs191971593
• ExAC: 7:4823061 G / A
• gnomAD v2: 7-4823061-G-A
• gnomAD v3: 7-4783430-G-A
• gnomAD v4: 7-4783430-G-A
• MyVariant Identifiers: chr7:g.4823061G>A (hg19) ; chr7:g.4783430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4783430G>A , CM000669.2:g.4783430G>A	GRCh38
NC_000007.13:g.4823061G>A , CM000669.1:g.4823061G>A	GRCh37
NC_000007.12:g.4789587G>A	NCBI36
NG_028111.1:g.12800G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.239G>A
ENST00000496303.6:n.340-259G>A
ENST00000647984.1:c.294G>A	ENSP00000497794.1:p.Ser98=
ENST00000648925.1:c.481G>A	ENSP00000496830.1:p.Val161Met
ENST00000649063.2:c.481G>A MANE Select	ENSP00000497815.1:p.Val161Met
ENST00000650310.1:c.481G>A	ENSP00000497395.1:p.Val161Met
ENST00000650451.1:c.180-773G>A	ENSP00000496998.1:n.180-773G>A
ENST00000348624.4:c.481G>A	ENSP00000297562.4:p.Val161Met
ENST00000477680.5:n.239G>A
ENST00000491375.1:n.108G>A
ENST00000496303.5:n.545G>A
NM_014855.2:c.481G>A	NP_055670.1:p.Val161Met
XR_242109.1:n.506G>A
NM_001364858.1:c.13G>A	NP_001351787.1:p.Val5Met
NM_014855.3:c.481G>A MANE Select	NP_055670.1:p.Val161Met
NR_157345.1:n.574G>A