Canonical Allele Identifier: CA403587218
Gene: CLPP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6361916G>C , CM000681.2:g.6361916G>C GRCh38
NC_000019.9:g.6361927G>C , CM000681.1:g.6361927G>C GRCh37
NC_000019.8:g.6312927G>C NCBI36
NG_033887.1:g.5465G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006012.4:c.246G>C MANE Select NP_006003.1:p.Glu82Asp
ENST00000245816.11:c.246G>C MANE Select ENSP00000245816.3:p.Glu82Asp
NM_006012.2:c.246G>C NP_006003.1:p.Glu82Asp
NM_006012.3:c.246G>C NP_006003.1:p.Glu82Asp
ENST00000245816.8:c.246G>C ENSP00000245816.3:p.Glu82Asp
ENST00000594780.1:n.147G>C
ENST00000596070.1:n.256G>C
ENST00000596149.5:c.-16G>C ENSP00000472227.1:n.-16G>C
ENST00000596605.1:c.-16G>C ENSP00000469124.1:n.-16G>C
ENST00000596605.2:c.29G>C
ENST00000597326.5:c.74G>C ENSP00000470098.1:p.Ser25Thr
ENST00000597326.6:c.74G>C