Canonical Allele Identifier: CA6171478

Gene: CLPB

Linked Data

• ClinVar Variation Id: 235218
• ClinVar RCV Id: RCV000224307 ; RCV000424439 ; RCV001080392 ; RCV002500743
• dbSNP Id: rs143097446
• ExAC: 11:72084037 C / T
• gnomAD v2: 11-72084037-C-T
• gnomAD v3: 11-72372993-C-T
• gnomAD v4: 11-72372993-C-T
• MyVariant Identifiers: chr11:g.72084037C>T (hg19) ; chr11:g.72372993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72372993C>T , CM000673.2:g.72372993C>T	GRCh38
NC_000011.9:g.72084037C>T , CM000673.1:g.72084037C>T	GRCh37
NC_000011.8:g.71761685C>T	NCBI36
NG_042130.1:g.66692G>A
NG_042130.2:g.66692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*268G>A	ENSP00000443822.2:n.*268G>A
ENST00000695924.1:n.717+7288G>A
ENST00000695925.1:n.717+7288G>A
ENST00000695926.1:n.717+7288G>A
ENST00000294053.9:c.668G>A MANE Plus Clinical	ENSP00000294053.3:p.Ser223Asn
ENST00000535477.6:c.*71+7288G>A	ENSP00000440423.2:n.*71+7288G>A
ENST00000538039.6:c.646+7288G>A MANE Select	ENSP00000441518.1:n.646+7288G>A
ENST00000543042.6:c.668G>A	ENSP00000439746.2:p.Ser223Asn
ENST00000642187.1:c.46+7288G>A	ENSP00000494594.1:n.46+7288G>A
ENST00000642288.1:c.133+7288G>A	ENSP00000495167.1:n.133+7288G>A
ENST00000646117.1:c.668G>A	ENSP00000495421.1:p.Ser223Asn
ENST00000294053.7:c.668G>A	ENSP00000294053.3:p.Ser223Asn
ENST00000340729.9:c.559+7288G>A	ENSP00000340385.5:n.559+7288G>A
ENST00000437826.6:c.533G>A	ENSP00000407296.2:p.Ser178Asn
ENST00000445069.4:n.495G>A
ENST00000535477.5:c.646+7288G>A	ENSP00000440423.1:n.646+7288G>A
ENST00000535990.5:c.683G>A	ENSP00000443822.1:p.Ser228Asn
ENST00000536297.1:c.44G>A
ENST00000538039.5:c.646+7288G>A	ENSP00000441518.1:n.646+7288G>A
ENST00000539148.3:c.230G>A	ENSP00000445327.1:p.Ser77Asn
ENST00000543042.5:c.133+7288G>A	ENSP00000439746.1:n.133+7288G>A
ENST00000544683.5:c.208+7288G>A	ENSP00000442651.1:n.208+7288G>A
NM_001258392.1:c.646+7288G>A	NP_001245321.1:n.646+7288G>A
NM_001258392.2:c.646+7288G>A	NP_001245321.1:n.646+7288G>A
NM_001258393.1:c.559+7288G>A	NP_001245322.1:n.559+7288G>A
NM_001258393.2:c.559+7288G>A	NP_001245322.1:n.559+7288G>A
NM_001258394.1:c.533G>A	NP_001245323.1:p.Ser178Asn
NM_001258394.2:c.533G>A	NP_001245323.1:p.Ser178Asn
NM_030813.4:c.668G>A	NP_110440.1:p.Ser223Asn
NM_030813.5:c.668G>A	NP_110440.1:p.Ser223Asn
XM_005274320.1:c.581G>A	XP_005274377.1:p.Ser194Asn
XM_011545288.1:c.668G>A	XP_011543590.1:p.Ser223Asn
XM_011545289.1:c.668G>A	XP_011543591.1:p.Ser223Asn
XM_011545289.2:c.668G>A	XP_011543591.1:p.Ser223Asn
NM_001258392.3:c.646+7288G>A MANE Select	NP_001245321.1:n.646+7288G>A
NM_001258393.3:c.559+7288G>A	NP_001245322.1:n.559+7288G>A
NM_030813.6:c.668G>A MANE Plus Clinical	NP_110440.1:p.Ser223Asn
NM_001258394.3:c.533G>A	NP_001245323.1:p.Ser178Asn