Canonical Allele Identifier: CA198522

Gene: CLPB

Linked Data

• ClinVar Variation Id: 187782
• ClinVar RCV Id: RCV000167539
• dbSNP Id: rs748010262
• MyVariant Identifiers: chr11:g.72005169G>A (hg19) ; chr11:g.72294125G>A (hg38)
• PubMed: PMID:25597510 ; PMID:27891836

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72294125G>A , CM000673.2:g.72294125G>A	GRCh38
NC_000011.9:g.72005169G>A , CM000673.1:g.72005169G>A	GRCh37
NC_000011.8:g.71682817G>A	NCBI36
NG_042130.1:g.145560C>T
NG_042130.2:g.145560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*1372C>T	ENSP00000443822.2:n.*1372C>T
ENST00000695924.1:n.2551C>T
ENST00000695925.1:n.3263C>T
ENST00000294053.9:c.1772C>T MANE Plus Clinical	ENSP00000294053.3:p.Ala591Val
ENST00000535477.6:c.*1107C>T	ENSP00000440423.2:n.*1107C>T
ENST00000538039.6:c.1682C>T MANE Select	ENSP00000441518.1:p.Ala561Val
ENST00000543042.6:c.1727C>T	ENSP00000439746.2:p.Ala576Val
ENST00000642187.1:c.1190C>T	ENSP00000494594.1:n.1190C>T
ENST00000645105.1:n.1100C>T
ENST00000646359.1:n.860C>T
ENST00000294053.7:c.1772C>T	ENSP00000294053.3:p.Ala591Val
ENST00000340729.9:c.1595C>T	ENSP00000340385.5:p.Ala532Val
ENST00000437826.6:c.1637C>T	ENSP00000407296.2:p.Ala546Val
ENST00000535477.5:c.*102C>T	ENSP00000440423.1:n.*102C>T
ENST00000535990.5:c.1787C>T	ENSP00000443822.1:p.Ala596Val
ENST00000538021.5:c.699C>T	ENSP00000445180.2:n.699C>T
ENST00000538039.5:c.1682C>T	ENSP00000441518.1:p.Ala561Val
ENST00000543042.5:c.1169C>T	ENSP00000439746.1:p.Ala390Val
NM_001258392.1:c.1682C>T	NP_001245321.1:p.Ala561Val
NM_001258392.2:c.1682C>T	NP_001245321.1:p.Ala561Val
NM_001258393.1:c.1595C>T	NP_001245322.1:p.Ala532Val
NM_001258393.2:c.1595C>T	NP_001245322.1:p.Ala532Val
NM_001258394.1:c.1637C>T	NP_001245323.1:p.Ala546Val
NM_001258394.2:c.1637C>T	NP_001245323.1:p.Ala546Val
NM_030813.4:c.1772C>T	NP_110440.1:p.Ala591Val
NM_030813.5:c.1772C>T	NP_110440.1:p.Ala591Val
XM_005274320.1:c.1685C>T	XP_005274377.1:p.Ala562Val
XM_011545288.1:c.1727C>T	XP_011543590.1:p.Ala576Val
NM_001258392.3:c.1682C>T MANE Select	NP_001245321.1:p.Ala561Val
NM_001258393.3:c.1595C>T	NP_001245322.1:p.Ala532Val
NM_030813.6:c.1772C>T MANE Plus Clinical	NP_110440.1:p.Ala591Val
NM_001258394.3:c.1637C>T	NP_001245323.1:p.Ala546Val