Canonical Allele Identifier: CA9122920
Gene: CLPP HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.6364524G>A
GRCh37 chr19:g.6364535G>A
Revel Score:
ENST00000245816 (MANE Select) 0.954
gnomAD v2:
19:6364535 G / A
gnomAD v3:
19:6364524 G / A
gnomAD v4:
chr19-6364524-G-A
Joint Max Group AF 0.0000255 (AFR)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 0.0000099 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6364524G>A , CM000681.2:g.6364524G>A GRCh38
NC_000019.9:g.6364535G>A , CM000681.1:g.6364535G>A GRCh37
NC_000019.8:g.6315535G>A NCBI36
NG_033887.1:g.8073G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245816.11:c.440G>A MANE Select ENSP00000245816.3:p.Cys147Tyr
ENST00000596605.2:c.151-1734G>A
ENST00000597326.6:c.251G>A
ENST00000245816.8:c.440G>A ENSP00000245816.3:p.Cys147Tyr
ENST00000594780.1:n.341G>A
ENST00000596070.1:n.955G>A
ENST00000596149.5:c.179G>A ENSP00000472227.1:p.Cys60Tyr
ENST00000596605.1:c.107-1734G>A ENSP00000469124.1:n.107-1734G>A
ENST00000597326.5:c.251G>A ENSP00000470098.1:p.Cys84Tyr
NM_006012.2:c.440G>A NP_006003.1:p.Cys147Tyr
NM_006012.3:c.440G>A NP_006003.1:p.Cys147Tyr
NM_006012.4:c.440G>A MANE Select NP_006003.1:p.Cys147Tyr
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