Canonical Allele Identifier: CA4137868

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 417161
• ClinVar RCV Id: RCV000710598 ; RCV001085751 ; RCV001848842
• dbSNP Id: rs182411153
• ExAC: 7:4827893 G / A
• gnomAD v2: 7-4827893-G-A
• gnomAD v3: 7-4788262-G-A
• gnomAD v4: 7-4788262-G-A
• MyVariant Identifiers: chr7:g.4827893G>A (hg19) ; chr7:g.4788262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788262G>A , CM000669.2:g.4788262G>A	GRCh38
NC_000007.13:g.4827893G>A , CM000669.1:g.4827893G>A	GRCh37
NC_000007.12:g.4794419G>A	NCBI36
NG_028111.1:g.17632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.1321G>A
ENST00000496303.6:n.1391G>A
ENST00000647984.1:c.*908G>A	ENSP00000497794.1:n.*908G>A
ENST00000648360.1:c.173G>A
ENST00000648925.1:c.1563G>A	ENSP00000496830.1:p.Leu521=
ENST00000649063.2:c.1563G>A MANE Select	ENSP00000497815.1:p.Leu521=
ENST00000649315.1:c.1060G>A
ENST00000649419.1:n.1442G>A
ENST00000649736.1:n.426G>A
ENST00000650310.1:c.*134G>A	ENSP00000497395.1:n.*134G>A
ENST00000650581.1:c.365G>A
ENST00000348624.4:c.1563G>A	ENSP00000297562.4:p.Leu521=
ENST00000469614.1:n.37G>A
ENST00000477454.1:n.344G>A
ENST00000477680.5:n.1321G>A
ENST00000496303.5:n.1627G>A
NM_014855.2:c.1563G>A	NP_055670.1:p.Leu521=
XR_242109.1:n.1626G>A
NM_001364858.1:c.1095G>A	NP_001351787.1:p.Leu365=
NM_014855.3:c.1563G>A MANE Select	NP_055670.1:p.Leu521=
NR_157345.1:n.1694G>A