Canonical Allele Identifier: CA10602723

Gene: CLPB

Linked Data

• ClinVar Variation Id: 279613
• ClinVar RCV Id: RCV000258936
• dbSNP Id: rs886041120
• MyVariant Identifiers: chr11:g.72004490A>T (hg19) ; chr11:g.72293446A>T (hg38)
• PubMed: PMID:25597510 ; PMID:27891836

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72293446A>T , CM000673.2:g.72293446A>T	GRCh38
NC_000011.9:g.72004490A>T , CM000673.1:g.72004490A>T	GRCh37
NC_000011.8:g.71682138A>T	NCBI36
NG_042130.1:g.146239T>A
NG_042130.2:g.146239T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*1645T>A	ENSP00000443822.2:n.*1645T>A
ENST00000695924.1:n.2824T>A
ENST00000695925.1:n.3536T>A
ENST00000294053.9:c.2045T>A MANE Plus Clinical	ENSP00000294053.3:p.Ile682Asn
ENST00000535477.6:c.*1380T>A	ENSP00000440423.2:n.*1380T>A
ENST00000538039.6:c.1955T>A MANE Select	ENSP00000441518.1:p.Ile652Asn
ENST00000543042.6:c.2000T>A	ENSP00000439746.2:p.Ile667Asn
ENST00000642187.1:c.1463T>A	ENSP00000494594.1:n.1463T>A
ENST00000645105.1:n.1373T>A
ENST00000646359.1:n.1133T>A
ENST00000294053.7:c.2045T>A	ENSP00000294053.3:p.Ile682Asn
ENST00000340729.9:c.1868T>A	ENSP00000340385.5:p.Ile623Asn
ENST00000437826.6:c.1910T>A	ENSP00000407296.2:p.Ile637Asn
ENST00000535477.5:c.*375T>A	ENSP00000440423.1:n.*375T>A
ENST00000535990.5:c.2060T>A	ENSP00000443822.1:p.Ile687Asn
ENST00000538021.5:c.972T>A	ENSP00000445180.2:n.972T>A
ENST00000538039.5:c.1955T>A	ENSP00000441518.1:p.Ile652Asn
ENST00000543042.5:c.1442T>A	ENSP00000439746.1:p.Ile481Asn
NM_001258392.1:c.1955T>A	NP_001245321.1:p.Ile652Asn
NM_001258392.2:c.1955T>A	NP_001245321.1:p.Ile652Asn
NM_001258393.1:c.1868T>A	NP_001245322.1:p.Ile623Asn
NM_001258393.2:c.1868T>A	NP_001245322.1:p.Ile623Asn
NM_001258394.1:c.1910T>A	NP_001245323.1:p.Ile637Asn
NM_001258394.2:c.1910T>A	NP_001245323.1:p.Ile637Asn
NM_030813.4:c.2045T>A	NP_110440.1:p.Ile682Asn
NM_030813.5:c.2045T>A	NP_110440.1:p.Ile682Asn
XM_005274320.1:c.1958T>A	XP_005274377.1:p.Ile653Asn
XM_011545288.1:c.2000T>A	XP_011543590.1:p.Ile667Asn
NM_001258392.3:c.1955T>A MANE Select	NP_001245321.1:p.Ile652Asn
NM_001258393.3:c.1868T>A	NP_001245322.1:p.Ile623Asn
NM_030813.6:c.2045T>A MANE Plus Clinical	NP_110440.1:p.Ile682Asn
NM_001258394.3:c.1910T>A	NP_001245323.1:p.Ile637Asn