Canonical Allele Identifier: CA2320389830
Community Standard Title: NM_006012.4(CLPP):c.440G= (p.Cys147=)
Gene: CLPP HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_006012.4:c.440G= MANE Select NP_006003.1:p.Cys147=
ENST00000245816.11:c.440G= MANE Select ENSP00000245816.3:p.Cys147=
NM_006012.2:c.440G= NP_006003.1:p.Cys147=
NM_006012.3:c.440G= NP_006003.1:p.Cys147=
ENST00000245816.8:c.440G= ENSP00000245816.3:p.Cys147=
ENST00000594780.1:n.341G=
ENST00000596070.1:n.955G=
ENST00000596149.5:c.179G= ENSP00000472227.1:p.Cys60=
ENST00000596605.1:c.107-1734G= ENSP00000469124.1:n.107-1734G=
ENST00000596605.2:c.151-1734G=
ENST00000597326.5:c.251G= ENSP00000470098.1:p.Cys84=
ENST00000597326.6:c.251G=