Canonical Allele Identifier: CA10629308

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 360387
• ClinVar RCV Id: RCV000314380 ; RCV003311785
• dbSNP Id: rs149234202
• gnomAD v2: 7-4832686-G-C
• gnomAD v3: 7-4793055-G-C
• gnomAD v4: 7-4793055-G-C
• MyVariant Identifiers: chr7:g.4832686G>C (hg19) ; chr7:g.4793055G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4793055G>C , CM000669.2:g.4793055G>C	GRCh38
NC_000007.13:g.4832686G>C , CM000669.1:g.4832686G>C	GRCh37
NC_000007.12:g.4799212G>C	NCBI36
NG_028111.1:g.22425G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648925.1:c.*2497G>C	ENSP00000496830.1:n.*2497G>C
ENST00000649063.2:c.*1670G>C MANE Select	ENSP00000497815.1:n.*1670G>C
ENST00000656625.1:n.73C>G
ENST00000496303.5:n.4403G>C
NM_014855.2:c.*1670G>C	NP_055670.1:n.*1670G>C
NM_001364858.1:c.*1670G>C	NP_001351787.1:n.*1670G>C
NM_014855.3:c.*1670G>C MANE Select	NP_055670.1:n.*1670G>C
NR_157345.1:n.4225G>C