Canonical Allele Identifier: CA304755861
Community Standard Title: NM_006012.4(CLPP):c.555+246C>T
Gene: CLPP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6364885C>T , CM000681.2:g.6364885C>T GRCh38
NC_000019.9:g.6364896C>T , CM000681.1:g.6364896C>T GRCh37
NC_000019.8:g.6315896C>T NCBI36
NG_033887.1:g.8434C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006012.4:c.555+246C>T MANE Select NP_006003.1:n.555+246C>T
ENST00000245816.11:c.555+246C>T MANE Select ENSP00000245816.3:n.555+246C>T
NM_006012.2:c.555+246C>T NP_006003.1:n.555+246C>T
NM_006012.3:c.555+246C>T NP_006003.1:n.555+246C>T
ENST00000245816.8:c.555+246C>T ENSP00000245816.3:n.555+246C>T
ENST00000594780.1:n.702C>T
ENST00000596070.1:n.1070+246C>T
ENST00000596149.5:c.294+246C>T ENSP00000472227.1:n.294+246C>T
ENST00000596605.1:c.107-1373C>T ENSP00000469124.1:n.107-1373C>T
ENST00000596605.2:c.151-1373C>T
ENST00000597326.5:c.366+246C>T ENSP00000470098.1:n.366+246C>T
ENST00000597326.6:c.366+246C>T
ENST00000646643.1:c.72+246C>T ENSP00000494298.1:n.72+246C>T