Canonical Allele Identifier: CA198520

Gene: CLPB

Linked Data

• ClinVar Variation Id: 187781
• ClinVar RCV Id: RCV000167538
• dbSNP Id: rs759500860
• ExAC: 11:72004598 C / A
• gnomAD v2: 11-72004598-C-A
• gnomAD v4: 11-72293554-C-A
• MyVariant Identifiers: chr11:g.72004598C>A (hg19) ; chr11:g.72293554C>A (hg38)
• PubMed: PMID:25597510 ; PMID:27891836

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72293554C>A , CM000673.2:g.72293554C>A	GRCh38
NC_000011.9:g.72004598C>A , CM000673.1:g.72004598C>A	GRCh37
NC_000011.8:g.71682246C>A	NCBI36
NG_042130.1:g.146131G>T
NG_042130.2:g.146131G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*1537G>T	ENSP00000443822.2:n.*1537G>T
ENST00000695924.1:n.2716G>T
ENST00000695925.1:n.3428G>T
ENST00000294053.9:c.1937G>T MANE Plus Clinical	ENSP00000294053.3:p.Gly646Val
ENST00000535477.6:c.*1272G>T	ENSP00000440423.2:n.*1272G>T
ENST00000538039.6:c.1847G>T MANE Select	ENSP00000441518.1:p.Gly616Val
ENST00000543042.6:c.1892G>T	ENSP00000439746.2:p.Gly631Val
ENST00000642187.1:c.1355G>T	ENSP00000494594.1:n.1355G>T
ENST00000645105.1:n.1265G>T
ENST00000646359.1:n.1025G>T
ENST00000294053.7:c.1937G>T	ENSP00000294053.3:p.Gly646Val
ENST00000340729.9:c.1760G>T	ENSP00000340385.5:p.Gly587Val
ENST00000437826.6:c.1802G>T	ENSP00000407296.2:p.Gly601Val
ENST00000535477.5:c.*267G>T	ENSP00000440423.1:n.*267G>T
ENST00000535990.5:c.1952G>T	ENSP00000443822.1:p.Gly651Val
ENST00000538021.5:c.864G>T	ENSP00000445180.2:n.864G>T
ENST00000538039.5:c.1847G>T	ENSP00000441518.1:p.Gly616Val
ENST00000543042.5:c.1334G>T	ENSP00000439746.1:p.Gly445Val
NM_001258392.1:c.1847G>T	NP_001245321.1:p.Gly616Val
NM_001258392.2:c.1847G>T	NP_001245321.1:p.Gly616Val
NM_001258393.1:c.1760G>T	NP_001245322.1:p.Gly587Val
NM_001258393.2:c.1760G>T	NP_001245322.1:p.Gly587Val
NM_001258394.1:c.1802G>T	NP_001245323.1:p.Gly601Val
NM_001258394.2:c.1802G>T	NP_001245323.1:p.Gly601Val
NM_030813.4:c.1937G>T	NP_110440.1:p.Gly646Val
NM_030813.5:c.1937G>T	NP_110440.1:p.Gly646Val
XM_005274320.1:c.1850G>T	XP_005274377.1:p.Gly617Val
XM_011545288.1:c.1892G>T	XP_011543590.1:p.Gly631Val
NM_001258392.3:c.1847G>T MANE Select	NP_001245321.1:p.Gly616Val
NM_001258393.3:c.1760G>T	NP_001245322.1:p.Gly587Val
NM_030813.6:c.1937G>T MANE Plus Clinical	NP_110440.1:p.Gly646Val
NM_001258394.3:c.1802G>T	NP_001245323.1:p.Gly601Val