Canonical Allele Identifier: CA9122872

Gene: CLPP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6362515C>T , CM000681.2:g.6362515C>T	GRCh38
NC_000019.9:g.6362526C>T , CM000681.1:g.6362526C>T	GRCh37
NC_000019.8:g.6313526C>T	NCBI36
NG_033887.1:g.6064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245816.11:c.340C>T MANE Select	ENSP00000245816.3:p.Pro114Ser
ENST00000596605.2:c.123C>T
ENST00000597326.6:c.168C>T
ENST00000245816.8:c.340C>T	ENSP00000245816.3:p.Pro114Ser
ENST00000594780.1:n.241C>T
ENST00000596070.1:n.855C>T
ENST00000596149.5:c.79C>T	ENSP00000472227.1:p.Pro27Ser
ENST00000596605.1:c.79C>T	ENSP00000469124.1:p.Pro27Ser
ENST00000597326.5:c.168C>T	ENSP00000470098.1:p.Ser56=
NM_006012.2:c.340C>T	NP_006003.1:p.Pro114Ser
NM_006012.3:c.340C>T	NP_006003.1:p.Pro114Ser
NM_006012.4:c.340C>T MANE Select	NP_006003.1:p.Pro114Ser