Canonical Allele Identifier: CA224386321

Gene: CLPB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72295350C>T , CM000673.2:g.72295350C>T	GRCh38
NC_000011.9:g.72006394C>T , CM000673.1:g.72006394C>T	GRCh37
NC_000011.8:g.71684042C>T	NCBI36
NG_042130.1:g.144335G>A
NG_042130.2:g.144335G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001258392.3:c.1486+142G>A MANE Select	NP_001245321.1:n.1486+142G>A
ENST00000538039.6:c.1486+142G>A MANE Select	ENSP00000441518.1:n.1486+142G>A
NM_030813.6:c.1576+142G>A MANE Plus Clinical	NP_110440.1:n.1576+142G>A
ENST00000294053.9:c.1576+142G>A MANE Plus Clinical	ENSP00000294053.3:n.1576+142G>A
NM_001258392.1:c.1486+142G>A	NP_001245321.1:n.1486+142G>A
NM_001258392.2:c.1486+142G>A	NP_001245321.1:n.1486+142G>A
NM_001258393.1:c.1399+142G>A	NP_001245322.1:n.1399+142G>A
NM_001258393.2:c.1399+142G>A	NP_001245322.1:n.1399+142G>A
NM_001258393.3:c.1399+142G>A	NP_001245322.1:n.1399+142G>A
NM_001258394.1:c.1441+142G>A	NP_001245323.1:n.1441+142G>A
NM_001258394.2:c.1441+142G>A	NP_001245323.1:n.1441+142G>A
NM_001258394.3:c.1441+142G>A	NP_001245323.1:n.1441+142G>A
NM_030813.4:c.1576+142G>A	NP_110440.1:n.1576+142G>A
NM_030813.5:c.1576+142G>A	NP_110440.1:n.1576+142G>A
ENST00000294053.7:c.1576+142G>A	ENSP00000294053.3:n.1576+142G>A
ENST00000340729.9:c.1399+142G>A	ENSP00000340385.5:n.1399+142G>A
ENST00000437826.6:c.1441+142G>A	ENSP00000407296.2:n.1441+142G>A
ENST00000535477.5:c.1486+142G>A	ENSP00000440423.1:n.1486+142G>A
ENST00000535477.6:c.*911+142G>A	ENSP00000440423.2:n.*911+142G>A
ENST00000535990.5:c.1591+142G>A	ENSP00000443822.1:n.1591+142G>A
ENST00000535990.6:c.*1176+142G>A	ENSP00000443822.2:n.*1176+142G>A
ENST00000538021.5:c.503+142G>A	ENSP00000445180.2:n.503+142G>A
ENST00000538039.5:c.1486+142G>A	ENSP00000441518.1:n.1486+142G>A
ENST00000543042.5:c.973+142G>A	ENSP00000439746.1:n.973+142G>A
ENST00000543042.6:c.1531+142G>A	ENSP00000439746.2:n.1531+142G>A
ENST00000544382.5:n.909+142G>A
ENST00000642187.1:c.994+142G>A	ENSP00000494594.1:n.994+142G>A
ENST00000642288.1:c.973+142G>A	ENSP00000495167.1:n.973+142G>A
ENST00000645105.1:n.904+142G>A
ENST00000646359.1:n.664+142G>A
ENST00000695924.1:n.1699G>A
ENST00000695925.1:n.2038G>A
XM_005274320.1:c.1489+142G>A	XP_005274377.1:n.1489+142G>A
XM_011545288.1:c.1531+142G>A	XP_011543590.1:n.1531+142G>A