Canonical Allele Identifier: CA10629282

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 360355
• ClinVar RCV Id: RCV000296324 ; RCV002512089
• dbSNP Id: rs527985598
• gnomAD v2: 7-4831548-G-A
• gnomAD v3: 7-4791917-G-A
• gnomAD v4: 7-4791917-G-A
• MyVariant Identifiers: chr7:g.4831548G>A (hg19) ; chr7:g.4791917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4791917G>A , CM000669.2:g.4791917G>A	GRCh38
NC_000007.13:g.4831548G>A , CM000669.1:g.4831548G>A	GRCh37
NC_000007.12:g.4798074G>A	NCBI36
NG_028111.1:g.21287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648925.1:c.*1359G>A	ENSP00000496830.1:n.*1359G>A
ENST00000649063.2:c.*532G>A MANE Select	ENSP00000497815.1:n.*532G>A
ENST00000496303.5:n.3265G>A
NM_014855.2:c.*532G>A	NP_055670.1:n.*532G>A
NM_001364858.1:c.*532G>A	NP_001351787.1:n.*532G>A
NM_014855.3:c.*532G>A MANE Select	NP_055670.1:n.*532G>A
NR_157345.1:n.3087G>A