Canonical Allele Identifier: CA381722944

Gene: CLPB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72293411T>G , CM000673.2:g.72293411T>G	GRCh38
NC_000011.9:g.72004455T>G , CM000673.1:g.72004455T>G	GRCh37
NC_000011.8:g.71682103T>G	NCBI36
NG_042130.1:g.146274A>C
NG_042130.2:g.146274A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001258392.3:c.1990A>C MANE Select	NP_001245321.1:p.Ile664Leu
ENST00000538039.6:c.1990A>C MANE Select	ENSP00000441518.1:p.Ile664Leu
NM_030813.6:c.2080A>C MANE Plus Clinical	NP_110440.1:p.Ile694Leu
ENST00000294053.9:c.2080A>C MANE Plus Clinical	ENSP00000294053.3:p.Ile694Leu
NM_001258392.1:c.1990A>C	NP_001245321.1:p.Ile664Leu
NM_001258392.2:c.1990A>C	NP_001245321.1:p.Ile664Leu
NM_001258393.1:c.1903A>C	NP_001245322.1:p.Ile635Leu
NM_001258393.2:c.1903A>C	NP_001245322.1:p.Ile635Leu
NM_001258393.3:c.1903A>C	NP_001245322.1:p.Ile635Leu
NM_001258394.1:c.1945A>C	NP_001245323.1:p.Ile649Leu
NM_001258394.2:c.1945A>C	NP_001245323.1:p.Ile649Leu
NM_001258394.3:c.1945A>C	NP_001245323.1:p.Ile649Leu
NM_030813.4:c.2080A>C	NP_110440.1:p.Ile694Leu
NM_030813.5:c.2080A>C	NP_110440.1:p.Ile694Leu
ENST00000294053.7:c.2080A>C	ENSP00000294053.3:p.Ile694Leu
ENST00000340729.9:c.1903A>C	ENSP00000340385.5:p.Ile635Leu
ENST00000437826.6:c.1945A>C	ENSP00000407296.2:p.Ile649Leu
ENST00000535477.5:c.*410A>C	ENSP00000440423.1:n.*410A>C
ENST00000535477.6:c.*1415A>C	ENSP00000440423.2:n.*1415A>C
ENST00000535990.5:c.2095A>C	ENSP00000443822.1:p.Ile699Leu
ENST00000535990.6:c.*1680A>C	ENSP00000443822.2:n.*1680A>C
ENST00000538021.5:c.1007A>C	ENSP00000445180.2:n.1007A>C
ENST00000538039.5:c.1990A>C	ENSP00000441518.1:p.Ile664Leu
ENST00000543042.5:c.1477A>C	ENSP00000439746.1:p.Ile493Leu
ENST00000543042.6:c.2035A>C	ENSP00000439746.2:p.Ile679Leu
ENST00000642187.1:c.1498A>C	ENSP00000494594.1:n.1498A>C
ENST00000645105.1:n.1408A>C
ENST00000646359.1:n.1168A>C
ENST00000695924.1:n.2859A>C
ENST00000695925.1:n.3571A>C
XM_005274320.1:c.1993A>C	XP_005274377.1:p.Ile665Leu
XM_011545288.1:c.2035A>C	XP_011543590.1:p.Ile679Leu