Canonical Allele Identifier: CA224395432

Gene: CLPB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72316799G>A , CM000673.2:g.72316799G>A	GRCh38
NC_000011.9:g.72027843G>A , CM000673.1:g.72027843G>A	GRCh37
NC_000011.8:g.71705491G>A	NCBI36
NG_042130.1:g.122886C>T
NG_042130.2:g.122886C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001258392.3:c.988+307C>T MANE Select	NP_001245321.1:n.988+307C>T
ENST00000538039.6:c.988+307C>T MANE Select	ENSP00000441518.1:n.988+307C>T
NM_030813.6:c.1078+307C>T MANE Plus Clinical	NP_110440.1:n.1078+307C>T
ENST00000294053.9:c.1078+307C>T MANE Plus Clinical	ENSP00000294053.3:n.1078+307C>T
NM_001258392.1:c.988+307C>T	NP_001245321.1:n.988+307C>T
NM_001258392.2:c.988+307C>T	NP_001245321.1:n.988+307C>T
NM_001258393.1:c.901+307C>T	NP_001245322.1:n.901+307C>T
NM_001258393.2:c.901+307C>T	NP_001245322.1:n.901+307C>T
NM_001258393.3:c.901+307C>T	NP_001245322.1:n.901+307C>T
NM_001258394.1:c.943+307C>T	NP_001245323.1:n.943+307C>T
NM_001258394.2:c.943+307C>T	NP_001245323.1:n.943+307C>T
NM_001258394.3:c.943+307C>T	NP_001245323.1:n.943+307C>T
NM_030813.4:c.1078+307C>T	NP_110440.1:n.1078+307C>T
NM_030813.5:c.1078+307C>T	NP_110440.1:n.1078+307C>T
ENST00000294053.7:c.1078+307C>T	ENSP00000294053.3:n.1078+307C>T
ENST00000340729.9:c.901+307C>T	ENSP00000340385.5:n.901+307C>T
ENST00000437826.6:c.943+307C>T	ENSP00000407296.2:n.943+307C>T
ENST00000535477.5:c.988+307C>T	ENSP00000440423.1:n.988+307C>T
ENST00000535477.6:c.*413+307C>T	ENSP00000440423.2:n.*413+307C>T
ENST00000535990.5:c.1093+307C>T	ENSP00000443822.1:n.1093+307C>T
ENST00000535990.6:c.*678+307C>T	ENSP00000443822.2:n.*678+307C>T
ENST00000538039.5:c.988+307C>T	ENSP00000441518.1:n.988+307C>T
ENST00000543042.5:c.475+307C>T	ENSP00000439746.1:n.475+307C>T
ENST00000543042.6:c.1078+307C>T	ENSP00000439746.2:n.1078+307C>T
ENST00000544382.5:n.411+307C>T
ENST00000642187.1:c.388+307C>T	ENSP00000494594.1:n.388+307C>T
ENST00000642288.1:c.475+307C>T	ENSP00000495167.1:n.475+307C>T
ENST00000645105.1:n.406+307C>T
ENST00000645650.1:n.332+307C>T
ENST00000695924.1:n.1059+307C>T
ENST00000695925.1:n.1059+307C>T
ENST00000695926.1:n.1366C>T
XM_005274320.1:c.991+307C>T	XP_005274377.1:n.991+307C>T
XM_011545288.1:c.1078+307C>T	XP_011543590.1:n.1078+307C>T
XM_011545289.1:c.1078+307C>T	XP_011543591.1:n.1078+307C>T
XM_011545289.2:c.1078+307C>T	XP_011543591.1:n.1078+307C>T