Canonical Allele Identifier: CA4138240

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 360343
• ClinVar RCV Id: RCV000433241 ; RCV000462575 ; RCV000766950 ; RCV002523598 ; RCV001848711
• dbSNP Id: rs61750324
• ExAC: 7:4830329 C / T
• gnomAD v2: 7-4830329-C-T
• gnomAD v3: 7-4790698-C-T
• gnomAD v4: 7-4790698-C-T
• MyVariant Identifiers: chr7:g.4830329C>T (hg19) ; chr7:g.4790698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790698C>T , CM000669.2:g.4790698C>T	GRCh38
NC_000007.13:g.4830329C>T , CM000669.1:g.4830329C>T	GRCh37
NC_000007.12:g.4796855C>T	NCBI36
NG_028111.1:g.20068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.2251C>T
ENST00000496303.6:n.1792C>T
ENST00000647984.1:c.*1309C>T	ENSP00000497794.1:n.*1309C>T
ENST00000648237.1:c.226+107C>T
ENST00000648360.1:c.644C>T
ENST00000648925.1:c.*367C>T	ENSP00000496830.1:n.*367C>T
ENST00000649063.2:c.1964C>T MANE Select	ENSP00000497815.1:p.Ser655Leu
ENST00000649315.1:c.1461C>T
ENST00000649419.1:n.1843C>T
ENST00000649736.1:n.827C>T
ENST00000650310.1:c.*535C>T	ENSP00000497395.1:n.*535C>T
ENST00000650581.1:c.608-112C>T
ENST00000348624.4:c.1964C>T	ENSP00000297562.4:p.Ser655Leu
ENST00000469614.1:n.1512C>T
ENST00000477680.5:n.2251C>T
ENST00000490487.1:n.226+107C>T
ENST00000496303.5:n.2273C>T
NM_014855.2:c.1964C>T	NP_055670.1:p.Ser655Leu
NM_001364858.1:c.1496C>T	NP_001351787.1:p.Ser499Leu
NM_014855.3:c.1964C>T MANE Select	NP_055670.1:p.Ser655Leu
NR_157345.1:n.2095C>T