Canonical Allele Identifier: CA6170972

Gene: CLPB

Linked Data

• ClinVar Variation Id: 384218
• ClinVar RCV Id: RCV000966302 ; RCV001572759
• dbSNP Id: rs112524097
• ExAC: 11:72004419 T / C
• gnomAD v2: 11-72004419-T-C
• gnomAD v3: 11-72293375-T-C
• gnomAD v4: 11-72293375-T-C
• MyVariant Identifiers: chr11:g.72004419T>C (hg19) ; chr11:g.72293375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72293375T>C , CM000673.2:g.72293375T>C	GRCh38
NC_000011.9:g.72004419T>C , CM000673.1:g.72004419T>C	GRCh37
NC_000011.8:g.71682067T>C	NCBI36
NG_042130.1:g.146310A>G
NG_042130.2:g.146310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*1716A>G	ENSP00000443822.2:n.*1716A>G
ENST00000695924.1:n.2895A>G
ENST00000695925.1:n.3607A>G
ENST00000294053.9:c.2116A>G MANE Plus Clinical	ENSP00000294053.3:p.Thr706Ala
ENST00000535477.6:c.*1451A>G	ENSP00000440423.2:n.*1451A>G
ENST00000538039.6:c.2026A>G MANE Select	ENSP00000441518.1:p.Thr676Ala
ENST00000543042.6:c.2071A>G	ENSP00000439746.2:p.Thr691Ala
ENST00000642187.1:c.1534A>G	ENSP00000494594.1:n.1534A>G
ENST00000645105.1:n.1444A>G
ENST00000646359.1:n.1204A>G
ENST00000294053.7:c.2116A>G	ENSP00000294053.3:p.Thr706Ala
ENST00000340729.9:c.1939A>G	ENSP00000340385.5:p.Thr647Ala
ENST00000437826.6:c.1981A>G	ENSP00000407296.2:p.Thr661Ala
ENST00000535477.5:c.*446A>G	ENSP00000440423.1:n.*446A>G
ENST00000535990.5:c.2131A>G	ENSP00000443822.1:p.Thr711Ala
ENST00000538021.5:c.1043A>G	ENSP00000445180.2:n.1043A>G
ENST00000538039.5:c.2026A>G	ENSP00000441518.1:p.Thr676Ala
ENST00000543042.5:c.1513A>G	ENSP00000439746.1:p.Thr505Ala
NM_001258392.1:c.2026A>G	NP_001245321.1:p.Thr676Ala
NM_001258392.2:c.2026A>G	NP_001245321.1:p.Thr676Ala
NM_001258393.1:c.1939A>G	NP_001245322.1:p.Thr647Ala
NM_001258393.2:c.1939A>G	NP_001245322.1:p.Thr647Ala
NM_001258394.1:c.1981A>G	NP_001245323.1:p.Thr661Ala
NM_001258394.2:c.1981A>G	NP_001245323.1:p.Thr661Ala
NM_030813.4:c.2116A>G	NP_110440.1:p.Thr706Ala
NM_030813.5:c.2116A>G	NP_110440.1:p.Thr706Ala
XM_005274320.1:c.2029A>G	XP_005274377.1:p.Thr677Ala
XM_011545288.1:c.2071A>G	XP_011543590.1:p.Thr691Ala
NM_001258392.3:c.2026A>G MANE Select	NP_001245321.1:p.Thr676Ala
NM_001258393.3:c.1939A>G	NP_001245322.1:p.Thr647Ala
NM_030813.6:c.2116A>G MANE Plus Clinical	NP_110440.1:p.Thr706Ala
NM_001258394.3:c.1981A>G	NP_001245323.1:p.Thr661Ala