Canonical Allele Identifier: CA4137439
Gene: AP5Z1 HGNC NCBI
COSMIC:
COSM6027345 (not active)
COSM6027346 (not active)
MyVariant.info:
GRCh38 chr7:g.4784998G>A
GRCh37 chr7:g.4824629G>A
Revel Score:
ENST00000348624 0.346
ENST00000401897 0.346
gnomAD v2:
7:4824629 G / A
gnomAD v3:
7:4784998 G / A
gnomAD v4:
chr7-4784998-G-A
Joint Max Group AF 0.00417624 (NFE)
Genomes Max Group AF 0.00309247 (NFE)
Exomes Max Group AF 0.00422316 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.4784998G>A , CM000669.2:g.4784998G>A GRCh38
NC_000007.13:g.4824629G>A , CM000669.1:g.4824629G>A GRCh37
NC_000007.12:g.4791155G>A NCBI36
NG_028111.1:g.14368G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477680.6:n.639G>A
ENST00000496303.6:n.709G>A
ENST00000647628.1:n.372G>A
ENST00000647984.1:c.*226G>A ENSP00000497794.1:n.*226G>A
ENST00000648925.1:c.881G>A ENSP00000496830.1:p.Arg294Gln
ENST00000649063.2:c.881G>A MANE Select ENSP00000497815.1:p.Arg294Gln
ENST00000649315.1:c.91G>A
ENST00000649419.1:n.88G>A
ENST00000650310.1:c.881G>A ENSP00000497395.1:p.Arg294Gln
ENST00000348624.4:c.881G>A ENSP00000297562.4:p.Arg294Gln
ENST00000477680.5:n.639G>A
ENST00000491375.1:n.736G>A
ENST00000496303.5:n.945G>A
NM_014855.2:c.881G>A NP_055670.1:p.Arg294Gln
XR_242109.1:n.906G>A
NM_001364858.1:c.413G>A NP_001351787.1:p.Arg138Gln
NM_014855.3:c.881G>A MANE Select NP_055670.1:p.Arg294Gln
NR_157345.1:n.974G>A
Search 100 bp 5'
Search 100 bp 3'