Canonical Allele Identifier: CA403587220
Gene: CLPP HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_006012.4:c.246G>T MANE Select NP_006003.1:p.Glu82Asp
ENST00000245816.11:c.246G>T MANE Select ENSP00000245816.3:p.Glu82Asp
NM_006012.2:c.246G>T NP_006003.1:p.Glu82Asp
NM_006012.3:c.246G>T NP_006003.1:p.Glu82Asp
ENST00000245816.8:c.246G>T ENSP00000245816.3:p.Glu82Asp
ENST00000594780.1:n.147G>T
ENST00000596070.1:n.256G>T
ENST00000596149.5:c.-16G>T ENSP00000472227.1:n.-16G>T
ENST00000596605.1:c.-16G>T ENSP00000469124.1:n.-16G>T
ENST00000596605.2:c.29G>T
ENST00000597326.5:c.74G>T ENSP00000470098.1:p.Ser25Ile
ENST00000597326.6:c.74G>T