Canonical Allele Identifier: CA381726574

Gene: CLPB

Linked Data

• ClinVar Variation Id: 1676588
• ClinVar RCV Id: RCV002221966 ; RCV002265063 ; RCV002468655
• dbSNP Id: rs2135485868
• MyVariant Identifiers: chr11:g.72005461C>T (hg19) ; chr11:g.72294417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72294417C>T , CM000673.2:g.72294417C>T	GRCh38
NC_000011.9:g.72005461C>T , CM000673.1:g.72005461C>T	GRCh37
NC_000011.8:g.71683109C>T	NCBI36
NG_042130.1:g.145268G>A
NG_042130.2:g.145268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*1278G>A	ENSP00000443822.2:n.*1278G>A
ENST00000695924.1:n.2457G>A
ENST00000695925.1:n.2971G>A
ENST00000294053.9:c.1678G>A MANE Plus Clinical	ENSP00000294053.3:p.Gly560Arg
ENST00000535477.6:c.*1013G>A	ENSP00000440423.2:n.*1013G>A
ENST00000538039.6:c.1588G>A MANE Select	ENSP00000441518.1:p.Gly530Arg
ENST00000543042.6:c.1633G>A	ENSP00000439746.2:p.Gly545Arg
ENST00000642187.1:c.1096G>A	ENSP00000494594.1:n.1096G>A
ENST00000642288.1:c.1075G>A	ENSP00000495167.1:p.Gly359Arg
ENST00000645105.1:n.1006G>A
ENST00000646359.1:n.766G>A
ENST00000294053.7:c.1678G>A	ENSP00000294053.3:p.Gly560Arg
ENST00000340729.9:c.1501G>A	ENSP00000340385.5:p.Gly501Arg
ENST00000437826.6:c.1543G>A	ENSP00000407296.2:p.Gly515Arg
ENST00000535477.5:c.*8G>A	ENSP00000440423.1:n.*8G>A
ENST00000535990.5:c.1693G>A	ENSP00000443822.1:p.Gly565Arg
ENST00000538021.5:c.605G>A	ENSP00000445180.2:n.605G>A
ENST00000538039.5:c.1588G>A	ENSP00000441518.1:p.Gly530Arg
ENST00000543042.5:c.1075G>A	ENSP00000439746.1:p.Gly359Arg
NM_001258392.1:c.1588G>A	NP_001245321.1:p.Gly530Arg
NM_001258392.2:c.1588G>A	NP_001245321.1:p.Gly530Arg
NM_001258393.1:c.1501G>A	NP_001245322.1:p.Gly501Arg
NM_001258393.2:c.1501G>A	NP_001245322.1:p.Gly501Arg
NM_001258394.1:c.1543G>A	NP_001245323.1:p.Gly515Arg
NM_001258394.2:c.1543G>A	NP_001245323.1:p.Gly515Arg
NM_030813.4:c.1678G>A	NP_110440.1:p.Gly560Arg
NM_030813.5:c.1678G>A	NP_110440.1:p.Gly560Arg
XM_005274320.1:c.1591G>A	XP_005274377.1:p.Gly531Arg
XM_011545288.1:c.1633G>A	XP_011543590.1:p.Gly545Arg
NM_001258392.3:c.1588G>A MANE Select	NP_001245321.1:p.Gly530Arg
NM_001258393.3:c.1501G>A	NP_001245322.1:p.Gly501Arg
NM_030813.6:c.1678G>A MANE Plus Clinical	NP_110440.1:p.Gly560Arg
NM_001258394.3:c.1543G>A	NP_001245323.1:p.Gly515Arg