Canonical Allele Identifier: CA381964599

Gene: CLPB

Linked Data

• MyVariant Identifiers: chr11:g.72114044C>G (hg19) ; chr11:g.72403000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72403000C>G , CM000673.2:g.72403000C>G	GRCh38
NC_000011.9:g.72114044C>G , CM000673.1:g.72114044C>G	GRCh37
NC_000011.8:g.71791692C>G	NCBI36
NG_042130.1:g.36685G>C
NG_042130.2:g.36685G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000535990.6:c.*108G>C	ENSP00000443822.2:n.*108G>C
ENST00000695924.1:n.579G>C
ENST00000695925.1:n.579G>C
ENST00000695926.1:n.579G>C
ENST00000294053.9:c.508G>C MANE Plus Clinical	ENSP00000294053.3:p.Ala170Pro
ENST00000535477.6:c.383G>C	ENSP00000440423.2:p.Ser128Thr
ENST00000538039.6:c.508G>C MANE Select	ENSP00000441518.1:p.Ala170Pro
ENST00000543042.6:c.508G>C	ENSP00000439746.2:p.Ala170Pro
ENST00000642288.1:c.-6G>C	ENSP00000495167.1:n.-6G>C
ENST00000646117.1:c.508G>C	ENSP00000495421.1:p.Ala170Pro
ENST00000294053.7:c.508G>C	ENSP00000294053.3:p.Ala170Pro
ENST00000340729.9:c.456-22616G>C	ENSP00000340385.5:n.456-22616G>C
ENST00000437826.6:c.373G>C	ENSP00000407296.2:p.Ala125Pro
ENST00000445069.4:n.335G>C
ENST00000535477.5:c.508G>C	ENSP00000440423.1:p.Ala170Pro
ENST00000535990.5:c.523G>C	ENSP00000443822.1:p.Ala175Pro
ENST00000538039.5:c.508G>C	ENSP00000441518.1:p.Ala170Pro
ENST00000539148.3:c.70G>C	ENSP00000445327.1:p.Ala24Pro
ENST00000543042.5:c.-6G>C	ENSP00000439746.1:n.-6G>C
ENST00000544683.5:c.70G>C	ENSP00000442651.1:p.Ala24Pro
NM_001258392.1:c.508G>C	NP_001245321.1:p.Ala170Pro
NM_001258392.2:c.508G>C	NP_001245321.1:p.Ala170Pro
NM_001258393.1:c.456-22616G>C	NP_001245322.1:n.456-22616G>C
NM_001258393.2:c.456-22616G>C	NP_001245322.1:n.456-22616G>C
NM_001258394.1:c.373G>C	NP_001245323.1:p.Ala125Pro
NM_001258394.2:c.373G>C	NP_001245323.1:p.Ala125Pro
NM_030813.4:c.508G>C	NP_110440.1:p.Ala170Pro
NM_030813.5:c.508G>C	NP_110440.1:p.Ala170Pro
XM_005274320.1:c.456-22616G>C	XP_005274377.1:n.456-22616G>C
XM_011545288.1:c.508G>C	XP_011543590.1:p.Ala170Pro
XM_011545289.1:c.508G>C	XP_011543591.1:p.Ala170Pro
XM_011545289.2:c.508G>C	XP_011543591.1:p.Ala170Pro
NM_001258392.3:c.508G>C MANE Select	NP_001245321.1:p.Ala170Pro
NM_001258393.3:c.456-22616G>C	NP_001245322.1:n.456-22616G>C
NM_030813.6:c.508G>C MANE Plus Clinical	NP_110440.1:p.Ala170Pro
NM_001258394.3:c.373G>C	NP_001245323.1:p.Ala125Pro