Canonical Allele Identifier: CA198528

Gene: CLPB

Linked Data

• ClinVar Variation Id: 187785
• ClinVar RCV Id: RCV000167542 ; RCV000487136 ; RCV002492676 ; RCV002516522
• dbSNP Id: rs144078282
• ExAC: 11:72013383 T / C
• gnomAD v2: 11-72013383-T-C
• gnomAD v3: 11-72302339-T-C
• gnomAD v4: 11-72302339-T-C
• MyVariant Identifiers: chr11:g.72013383T>C (hg19) ; chr11:g.72302339T>C (hg38)
• PubMed: PMID:25597510 ; PMID:27891836

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72302339T>C , CM000673.2:g.72302339T>C	GRCh38
NC_000011.9:g.72013383T>C , CM000673.1:g.72013383T>C	GRCh37
NC_000011.8:g.71691031T>C	NCBI36
NG_042130.1:g.137346A>G
NG_042130.2:g.137346A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000535990.6:c.*822A>G	ENSP00000443822.2:n.*822A>G
ENST00000695924.1:n.1203A>G
ENST00000695925.1:n.1203A>G
ENST00000294053.9:c.1222A>G MANE Plus Clinical	ENSP00000294053.3:p.Arg408Gly
ENST00000535477.6:c.*557A>G	ENSP00000440423.2:n.*557A>G
ENST00000538039.6:c.1132A>G MANE Select	ENSP00000441518.1:p.Arg378Gly
ENST00000543042.6:c.1213-375A>G	ENSP00000439746.2:n.1213-375A>G
ENST00000642187.1:c.640A>G	ENSP00000494594.1:n.640A>G
ENST00000642288.1:c.619A>G	ENSP00000495167.1:p.Arg207Gly
ENST00000645105.1:n.550A>G
ENST00000645650.1:n.476A>G
ENST00000646359.1:n.310A>G
ENST00000294053.7:c.1222A>G	ENSP00000294053.3:p.Arg408Gly
ENST00000340729.9:c.1045A>G	ENSP00000340385.5:p.Arg349Gly
ENST00000437826.6:c.1087A>G	ENSP00000407296.2:p.Arg363Gly
ENST00000535477.5:c.1132A>G	ENSP00000440423.1:p.Arg378Gly
ENST00000535990.5:c.1237A>G	ENSP00000443822.1:p.Arg413Gly
ENST00000538021.5:c.149A>G	ENSP00000445180.2:p.Gln50Arg
ENST00000538039.5:c.1132A>G	ENSP00000441518.1:p.Arg378Gly
ENST00000543042.5:c.619A>G	ENSP00000439746.1:p.Arg207Gly
ENST00000544382.5:n.555A>G
NM_001258392.1:c.1132A>G	NP_001245321.1:p.Arg378Gly
NM_001258392.2:c.1132A>G	NP_001245321.1:p.Arg378Gly
NM_001258393.1:c.1045A>G	NP_001245322.1:p.Arg349Gly
NM_001258393.2:c.1045A>G	NP_001245322.1:p.Arg349Gly
NM_001258394.1:c.1087A>G	NP_001245323.1:p.Arg363Gly
NM_001258394.2:c.1087A>G	NP_001245323.1:p.Arg363Gly
NM_030813.4:c.1222A>G	NP_110440.1:p.Arg408Gly
NM_030813.5:c.1222A>G	NP_110440.1:p.Arg408Gly
XM_005274320.1:c.1135A>G	XP_005274377.1:p.Arg379Gly
XM_011545288.1:c.1213-375A>G	XP_011543590.1:n.1213-375A>G
XR_950283.1:n.1728-273T>C
NM_001258392.3:c.1132A>G MANE Select	NP_001245321.1:p.Arg378Gly
NM_001258393.3:c.1045A>G	NP_001245322.1:p.Arg349Gly
NM_030813.6:c.1222A>G MANE Plus Clinical	NP_110440.1:p.Arg408Gly
NM_001258394.3:c.1087A>G	NP_001245323.1:p.Arg363Gly