Canonical Allele Identifier: CA6171049

Gene: CLPB

Linked Data

• dbSNP Id: rs768452523
• ExAC: 11:72005097 A / T
• gnomAD v2: 11-72005097-A-T
• gnomAD v3: 11-72294053-A-T
• gnomAD v4: 11-72294053-A-T
• MyVariant Identifiers: chr11:g.72005097A>T (hg19) ; chr11:g.72294053A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72294053A>T , CM000673.2:g.72294053A>T	GRCh38
NC_000011.9:g.72005097A>T , CM000673.1:g.72005097A>T	GRCh37
NC_000011.8:g.71682745A>T	NCBI36
NG_042130.1:g.145632T>A
NG_042130.2:g.145632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*1444T>A	ENSP00000443822.2:n.*1444T>A
ENST00000695924.1:n.2623T>A
ENST00000695925.1:n.3335T>A
ENST00000294053.9:c.1844T>A MANE Plus Clinical	ENSP00000294053.3:p.Val615Glu
ENST00000535477.6:c.*1179T>A	ENSP00000440423.2:n.*1179T>A
ENST00000538039.6:c.1754T>A MANE Select	ENSP00000441518.1:p.Val585Glu
ENST00000543042.6:c.1799T>A	ENSP00000439746.2:p.Val600Glu
ENST00000642187.1:c.1262T>A	ENSP00000494594.1:n.1262T>A
ENST00000645105.1:n.1172T>A
ENST00000646359.1:n.932T>A
ENST00000294053.7:c.1844T>A	ENSP00000294053.3:p.Val615Glu
ENST00000340729.9:c.1667T>A	ENSP00000340385.5:p.Val556Glu
ENST00000437826.6:c.1709T>A	ENSP00000407296.2:p.Val570Glu
ENST00000535477.5:c.*174T>A	ENSP00000440423.1:n.*174T>A
ENST00000535990.5:c.1859T>A	ENSP00000443822.1:p.Val620Glu
ENST00000538021.5:c.771T>A	ENSP00000445180.2:n.771T>A
ENST00000538039.5:c.1754T>A	ENSP00000441518.1:p.Val585Glu
ENST00000543042.5:c.1241T>A	ENSP00000439746.1:p.Val414Glu
NM_001258392.1:c.1754T>A	NP_001245321.1:p.Val585Glu
NM_001258392.2:c.1754T>A	NP_001245321.1:p.Val585Glu
NM_001258393.1:c.1667T>A	NP_001245322.1:p.Val556Glu
NM_001258393.2:c.1667T>A	NP_001245322.1:p.Val556Glu
NM_001258394.1:c.1709T>A	NP_001245323.1:p.Val570Glu
NM_001258394.2:c.1709T>A	NP_001245323.1:p.Val570Glu
NM_030813.4:c.1844T>A	NP_110440.1:p.Val615Glu
NM_030813.5:c.1844T>A	NP_110440.1:p.Val615Glu
XM_005274320.1:c.1757T>A	XP_005274377.1:p.Val586Glu
XM_011545288.1:c.1799T>A	XP_011543590.1:p.Val600Glu
NM_001258392.3:c.1754T>A MANE Select	NP_001245321.1:p.Val585Glu
NM_001258393.3:c.1667T>A	NP_001245322.1:p.Val556Glu
NM_030813.6:c.1844T>A MANE Plus Clinical	NP_110440.1:p.Val615Glu
NM_001258394.3:c.1709T>A	NP_001245323.1:p.Val570Glu