Canonical Allele Identifier: CA4137705

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 240933
• ClinVar RCV Id: RCV000228923 ; RCV001847981 ; RCV002518353
• dbSNP Id: rs376329631
• ExAC: 7:4826015 G / A
• gnomAD v2: 7-4826015-G-A
• gnomAD v3: 7-4786384-G-A
• gnomAD v4: 7-4786384-G-A
• MyVariant Identifiers: chr7:g.4826015G>A (hg19) ; chr7:g.4786384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4786384G>A , CM000669.2:g.4786384G>A	GRCh38
NC_000007.13:g.4826015G>A , CM000669.1:g.4826015G>A	GRCh37
NC_000007.12:g.4792541G>A	NCBI36
NG_028111.1:g.15754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.1025G>A
ENST00000496303.6:n.1095G>A
ENST00000647628.1:n.758G>A
ENST00000647984.1:c.*612G>A	ENSP00000497794.1:n.*612G>A
ENST00000648765.1:n.590G>A
ENST00000648925.1:c.1267G>A	ENSP00000496830.1:p.Gly423Arg
ENST00000649063.2:c.1267G>A MANE Select	ENSP00000497815.1:p.Gly423Arg
ENST00000649315.1:c.726G>A
ENST00000649419.1:n.1108G>A
ENST00000650310.1:c.1267G>A	ENSP00000497395.1:p.Gly423Arg
ENST00000650581.1:c.69G>A
ENST00000348624.4:c.1267G>A	ENSP00000297562.4:p.Gly423Arg
ENST00000477454.1:n.10G>A
ENST00000477680.5:n.1025G>A
ENST00000496303.5:n.1331G>A
NM_014855.2:c.1267G>A	NP_055670.1:p.Gly423Arg
XR_242109.1:n.1292G>A
NM_001364858.1:c.799G>A	NP_001351787.1:p.Gly267Arg
NM_014855.3:c.1267G>A MANE Select	NP_055670.1:p.Gly423Arg
NR_157345.1:n.1360G>A