Canonical Allele Identifier: CA403589616

Gene: CLPP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6364523T>A , CM000681.2:g.6364523T>A	GRCh38
NC_000019.9:g.6364534T>A , CM000681.1:g.6364534T>A	GRCh37
NC_000019.8:g.6315534T>A	NCBI36
NG_033887.1:g.8072T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245816.11:c.439T>A MANE Select	ENSP00000245816.3:p.Cys147Ser
ENST00000596605.2:c.151-1735T>A
ENST00000597326.6:c.250T>A
ENST00000245816.8:c.439T>A	ENSP00000245816.3:p.Cys147Ser
ENST00000594780.1:n.340T>A
ENST00000596070.1:n.954T>A
ENST00000596149.5:c.178T>A	ENSP00000472227.1:p.Cys60Ser
ENST00000596605.1:c.107-1735T>A	ENSP00000469124.1:n.107-1735T>A
ENST00000597326.5:c.250T>A	ENSP00000470098.1:p.Cys84Ser
NM_006012.2:c.439T>A	NP_006003.1:p.Cys147Ser
NM_006012.3:c.439T>A	NP_006003.1:p.Cys147Ser
NM_006012.4:c.439T>A MANE Select	NP_006003.1:p.Cys147Ser