Canonical Allele Identifier: CA475610133

Gene: CLPB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72308576G>A , CM000673.2:g.72308576G>A	GRCh38
NC_000011.9:g.72019620G>A , CM000673.1:g.72019620G>A	GRCh37
NC_000011.8:g.71697268G>A	NCBI36
NG_042130.1:g.131109C>T
NG_042130.2:g.131109C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001258392.3:c.1017C>T MANE Select	NP_001245321.1:p.Tyr339=
ENST00000538039.6:c.1017C>T MANE Select	ENSP00000441518.1:p.Tyr339=
NM_030813.6:c.1107C>T MANE Plus Clinical	NP_110440.1:p.Tyr369=
ENST00000294053.9:c.1107C>T MANE Plus Clinical	ENSP00000294053.3:p.Tyr369=
NM_001258392.1:c.1017C>T	NP_001245321.1:p.Tyr339=
NM_001258392.2:c.1017C>T	NP_001245321.1:p.Tyr339=
NM_001258393.1:c.930C>T	NP_001245322.1:p.Tyr310=
NM_001258393.2:c.930C>T	NP_001245322.1:p.Tyr310=
NM_001258393.3:c.930C>T	NP_001245322.1:p.Tyr310=
NM_001258394.1:c.972C>T	NP_001245323.1:p.Tyr324=
NM_001258394.2:c.972C>T	NP_001245323.1:p.Tyr324=
NM_001258394.3:c.972C>T	NP_001245323.1:p.Tyr324=
NM_030813.4:c.1107C>T	NP_110440.1:p.Tyr369=
NM_030813.5:c.1107C>T	NP_110440.1:p.Tyr369=
ENST00000294053.7:c.1107C>T	ENSP00000294053.3:p.Tyr369=
ENST00000340729.9:c.930C>T	ENSP00000340385.5:p.Tyr310=
ENST00000437826.6:c.972C>T	ENSP00000407296.2:p.Tyr324=
ENST00000535477.5:c.1017C>T	ENSP00000440423.1:p.Tyr339=
ENST00000535477.6:c.*442C>T	ENSP00000440423.2:n.*442C>T
ENST00000535990.5:c.1122C>T	ENSP00000443822.1:p.Tyr374=
ENST00000535990.6:c.*707C>T	ENSP00000443822.2:n.*707C>T
ENST00000538021.5:c.9C>T	ENSP00000445180.2:p.Tyr3=
ENST00000538039.5:c.1017C>T	ENSP00000441518.1:p.Tyr339=
ENST00000543042.5:c.504C>T	ENSP00000439746.1:p.Tyr168=
ENST00000543042.6:c.1107C>T	ENSP00000439746.2:p.Tyr369=
ENST00000544382.5:n.440C>T
ENST00000642187.1:c.525C>T	ENSP00000494594.1:n.525C>T
ENST00000642288.1:c.504C>T	ENSP00000495167.1:p.Tyr168=
ENST00000645105.1:n.435C>T
ENST00000645650.1:n.361C>T
ENST00000695924.1:n.1088C>T
ENST00000695925.1:n.1088C>T
XM_005274320.1:c.1020C>T	XP_005274377.1:p.Tyr340=
XM_011545288.1:c.1107C>T	XP_011543590.1:p.Tyr369=