Canonical Allele Identifier: CA6171372

Gene: CLPB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72329786C>G , CM000673.2:g.72329786C>G	GRCh38
NC_000011.9:g.72040830C>G , CM000673.1:g.72040830C>G	GRCh37
NC_000011.8:g.71718478C>G	NCBI36
NG_042130.1:g.109899G>C
NG_042130.2:g.109899G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001258392.3:c.794G>C MANE Select	NP_001245321.1:p.Arg265Thr
ENST00000538039.6:c.794G>C MANE Select	ENSP00000441518.1:p.Arg265Thr
NM_030813.6:c.884G>C MANE Plus Clinical	NP_110440.1:p.Arg295Thr
ENST00000294053.9:c.884G>C MANE Plus Clinical	ENSP00000294053.3:p.Arg295Thr
NM_001258392.1:c.794G>C	NP_001245321.1:p.Arg265Thr
NM_001258392.2:c.794G>C	NP_001245321.1:p.Arg265Thr
NM_001258393.1:c.707G>C	NP_001245322.1:p.Arg236Thr
NM_001258393.2:c.707G>C	NP_001245322.1:p.Arg236Thr
NM_001258393.3:c.707G>C	NP_001245322.1:p.Arg236Thr
NM_001258394.1:c.749G>C	NP_001245323.1:p.Arg250Thr
NM_001258394.2:c.749G>C	NP_001245323.1:p.Arg250Thr
NM_001258394.3:c.749G>C	NP_001245323.1:p.Arg250Thr
NM_030813.4:c.884G>C	NP_110440.1:p.Arg295Thr
NM_030813.5:c.884G>C	NP_110440.1:p.Arg295Thr
ENST00000294053.7:c.884G>C	ENSP00000294053.3:p.Arg295Thr
ENST00000340729.9:c.707G>C	ENSP00000340385.5:p.Arg236Thr
ENST00000437826.6:c.749G>C	ENSP00000407296.2:p.Arg250Thr
ENST00000535477.5:c.794G>C	ENSP00000440423.1:p.Arg265Thr
ENST00000535477.6:c.*219G>C	ENSP00000440423.2:n.*219G>C
ENST00000535990.5:c.899G>C	ENSP00000443822.1:p.Arg300Thr
ENST00000535990.6:c.*484G>C	ENSP00000443822.2:n.*484G>C
ENST00000538039.5:c.794G>C	ENSP00000441518.1:p.Arg265Thr
ENST00000539148.3:c.446G>C	ENSP00000445327.1:p.Arg149Thr
ENST00000543042.5:c.281G>C	ENSP00000439746.1:p.Arg94Thr
ENST00000543042.6:c.884G>C	ENSP00000439746.2:p.Arg295Thr
ENST00000544382.5:n.217G>C
ENST00000544683.5:c.356G>C	ENSP00000442651.1:p.Arg119Thr
ENST00000642187.1:c.194G>C	ENSP00000494594.1:p.Arg65Thr
ENST00000642288.1:c.281G>C	ENSP00000495167.1:p.Arg94Thr
ENST00000645105.1:n.212G>C
ENST00000645650.1:n.138G>C
ENST00000695924.1:n.865G>C
ENST00000695925.1:n.865G>C
ENST00000695926.1:n.865G>C
XM_005274320.1:c.797G>C	XP_005274377.1:p.Arg266Thr
XM_011545288.1:c.884G>C	XP_011543590.1:p.Arg295Thr
XM_011545289.1:c.884G>C	XP_011543591.1:p.Arg295Thr
XM_011545289.2:c.884G>C	XP_011543591.1:p.Arg295Thr