Canonical Allele Identifier: CA6171253

Gene: CLPB

Linked Data

• ClinVar Variation Id: 2199428
• ClinVar RCV Id: RCV002624894
• dbSNP Id: rs144078282
• ExAC: 11:72013383 T / A
• gnomAD v2: 11-72013383-T-A
• gnomAD v3: 11-72302339-T-A
• gnomAD v4: 11-72302339-T-A
• MyVariant Identifiers: chr11:g.72013383T>A (hg19) ; chr11:g.72302339T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000535990.6:c.*822A>T	ENSP00000443822.2:n.*822A>T
ENST00000695924.1:n.1203A>T
ENST00000695925.1:n.1203A>T
ENST00000294053.9:c.1222A>T MANE Plus Clinical	ENSP00000294053.3:p.Arg408Trp
ENST00000535477.6:c.*557A>T	ENSP00000440423.2:n.*557A>T
ENST00000538039.6:c.1132A>T MANE Select	ENSP00000441518.1:p.Arg378Trp
ENST00000543042.6:c.1213-375A>T	ENSP00000439746.2:n.1213-375A>T
ENST00000642187.1:c.640A>T	ENSP00000494594.1:n.640A>T
ENST00000642288.1:c.619A>T	ENSP00000495167.1:p.Arg207Trp
ENST00000645105.1:n.550A>T
ENST00000645650.1:n.476A>T
ENST00000646359.1:n.310A>T
ENST00000294053.7:c.1222A>T	ENSP00000294053.3:p.Arg408Trp
ENST00000340729.9:c.1045A>T	ENSP00000340385.5:p.Arg349Trp
ENST00000437826.6:c.1087A>T	ENSP00000407296.2:p.Arg363Trp
ENST00000535477.5:c.1132A>T	ENSP00000440423.1:p.Arg378Trp
ENST00000535990.5:c.1237A>T	ENSP00000443822.1:p.Arg413Trp
ENST00000538021.5:c.149A>T	ENSP00000445180.2:p.Gln50Leu
ENST00000538039.5:c.1132A>T	ENSP00000441518.1:p.Arg378Trp
ENST00000543042.5:c.619A>T	ENSP00000439746.1:p.Arg207Trp
ENST00000544382.5:n.555A>T
NM_001258392.1:c.1132A>T	NP_001245321.1:p.Arg378Trp
NM_001258392.2:c.1132A>T	NP_001245321.1:p.Arg378Trp
NM_001258393.1:c.1045A>T	NP_001245322.1:p.Arg349Trp
NM_001258393.2:c.1045A>T	NP_001245322.1:p.Arg349Trp
NM_001258394.1:c.1087A>T	NP_001245323.1:p.Arg363Trp
NM_001258394.2:c.1087A>T	NP_001245323.1:p.Arg363Trp
NM_030813.4:c.1222A>T	NP_110440.1:p.Arg408Trp
NM_030813.5:c.1222A>T	NP_110440.1:p.Arg408Trp
XM_005274320.1:c.1135A>T	XP_005274377.1:p.Arg379Trp
XM_011545288.1:c.1213-375A>T	XP_011543590.1:n.1213-375A>T
XR_950283.1:n.1728-273T>A
NM_001258392.3:c.1132A>T MANE Select	NP_001245321.1:p.Arg378Trp
NM_001258393.3:c.1045A>T	NP_001245322.1:p.Arg349Trp
NM_030813.6:c.1222A>T MANE Plus Clinical	NP_110440.1:p.Arg408Trp
NM_001258394.3:c.1087A>T	NP_001245323.1:p.Arg363Trp