Canonical Allele Identifier: CA16619403

Gene: CLPB

Linked Data

• ClinVar Variation Id: 424029
• ClinVar RCV Id: RCV000478888
• dbSNP Id: rs1064796757
• MyVariant Identifiers: chr11:g.72114038T>G (hg19) ; chr11:g.72402994T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72402994T>G , CM000673.2:g.72402994T>G	GRCh38
NC_000011.9:g.72114038T>G , CM000673.1:g.72114038T>G	GRCh37
NC_000011.8:g.71791686T>G	NCBI36
NG_042130.1:g.36691A>C
NG_042130.2:g.36691A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000535990.6:c.*114A>C	ENSP00000443822.2:n.*114A>C
ENST00000695924.1:n.585A>C
ENST00000695925.1:n.585A>C
ENST00000695926.1:n.585A>C
ENST00000294053.9:c.514A>C MANE Plus Clinical	ENSP00000294053.3:p.Met172Leu
ENST00000535477.6:c.389A>C	ENSP00000440423.2:p.His130Pro
ENST00000538039.6:c.514A>C MANE Select	ENSP00000441518.1:p.Met172Leu
ENST00000543042.6:c.514A>C	ENSP00000439746.2:p.Met172Leu
ENST00000642288.1:c.1A>C	ENSP00000495167.1:p.Met1Leu
ENST00000646117.1:c.514A>C	ENSP00000495421.1:p.Met172Leu
ENST00000294053.7:c.514A>C	ENSP00000294053.3:p.Met172Leu
ENST00000340729.9:c.456-22610A>C	ENSP00000340385.5:n.456-22610A>C
ENST00000437826.6:c.379A>C	ENSP00000407296.2:p.Met127Leu
ENST00000445069.4:n.341A>C
ENST00000535477.5:c.514A>C	ENSP00000440423.1:p.Met172Leu
ENST00000535990.5:c.529A>C	ENSP00000443822.1:p.Met177Leu
ENST00000538039.5:c.514A>C	ENSP00000441518.1:p.Met172Leu
ENST00000539148.3:c.76A>C	ENSP00000445327.1:p.Met26Leu
ENST00000543042.5:c.1A>C	ENSP00000439746.1:p.Met1Leu
ENST00000544683.5:c.76A>C	ENSP00000442651.1:p.Met26Leu
NM_001258392.1:c.514A>C	NP_001245321.1:p.Met172Leu
NM_001258392.2:c.514A>C	NP_001245321.1:p.Met172Leu
NM_001258393.1:c.456-22610A>C	NP_001245322.1:n.456-22610A>C
NM_001258393.2:c.456-22610A>C	NP_001245322.1:n.456-22610A>C
NM_001258394.1:c.379A>C	NP_001245323.1:p.Met127Leu
NM_001258394.2:c.379A>C	NP_001245323.1:p.Met127Leu
NM_030813.4:c.514A>C	NP_110440.1:p.Met172Leu
NM_030813.5:c.514A>C	NP_110440.1:p.Met172Leu
XM_005274320.1:c.456-22610A>C	XP_005274377.1:n.456-22610A>C
XM_011545288.1:c.514A>C	XP_011543590.1:p.Met172Leu
XM_011545289.1:c.514A>C	XP_011543591.1:p.Met172Leu
XM_011545289.2:c.514A>C	XP_011543591.1:p.Met172Leu
NM_001258392.3:c.514A>C MANE Select	NP_001245321.1:p.Met172Leu
NM_001258393.3:c.456-22610A>C	NP_001245322.1:n.456-22610A>C
NM_030813.6:c.514A>C MANE Plus Clinical	NP_110440.1:p.Met172Leu
NM_001258394.3:c.379A>C	NP_001245323.1:p.Met127Leu