Canonical Allele Identifier: CA381964609

Gene: CLPB

Linked Data

• MyVariant Identifiers: chr11:g.72114049C>A (hg19) ; chr11:g.72403005C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72403005C>A , CM000673.2:g.72403005C>A	GRCh38
NC_000011.9:g.72114049C>A , CM000673.1:g.72114049C>A	GRCh37
NC_000011.8:g.71791697C>A	NCBI36
NG_042130.1:g.36680G>T
NG_042130.2:g.36680G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000535990.6:c.*103G>T	ENSP00000443822.2:n.*103G>T
ENST00000695924.1:n.574G>T
ENST00000695925.1:n.574G>T
ENST00000695926.1:n.574G>T
ENST00000294053.9:c.503G>T MANE Plus Clinical	ENSP00000294053.3:p.Trp168Leu
ENST00000535477.6:c.378G>T	ENSP00000440423.2:p.Leu126=
ENST00000538039.6:c.503G>T MANE Select	ENSP00000441518.1:p.Trp168Leu
ENST00000543042.6:c.503G>T	ENSP00000439746.2:p.Trp168Leu
ENST00000642288.1:c.-11G>T	ENSP00000495167.1:n.-11G>T
ENST00000646117.1:c.503G>T	ENSP00000495421.1:p.Trp168Leu
ENST00000294053.7:c.503G>T	ENSP00000294053.3:p.Trp168Leu
ENST00000340729.9:c.456-22621G>T	ENSP00000340385.5:n.456-22621G>T
ENST00000437826.6:c.368G>T	ENSP00000407296.2:p.Trp123Leu
ENST00000445069.4:n.330G>T
ENST00000535477.5:c.503G>T	ENSP00000440423.1:p.Trp168Leu
ENST00000535990.5:c.518G>T	ENSP00000443822.1:p.Trp173Leu
ENST00000538039.5:c.503G>T	ENSP00000441518.1:p.Trp168Leu
ENST00000539148.3:c.65G>T	ENSP00000445327.1:p.Trp22Leu
ENST00000543042.5:c.-11G>T	ENSP00000439746.1:n.-11G>T
ENST00000544683.5:c.65G>T	ENSP00000442651.1:p.Trp22Leu
NM_001258392.1:c.503G>T	NP_001245321.1:p.Trp168Leu
NM_001258392.2:c.503G>T	NP_001245321.1:p.Trp168Leu
NM_001258393.1:c.456-22621G>T	NP_001245322.1:n.456-22621G>T
NM_001258393.2:c.456-22621G>T	NP_001245322.1:n.456-22621G>T
NM_001258394.1:c.368G>T	NP_001245323.1:p.Trp123Leu
NM_001258394.2:c.368G>T	NP_001245323.1:p.Trp123Leu
NM_030813.4:c.503G>T	NP_110440.1:p.Trp168Leu
NM_030813.5:c.503G>T	NP_110440.1:p.Trp168Leu
XM_005274320.1:c.456-22621G>T	XP_005274377.1:n.456-22621G>T
XM_011545288.1:c.503G>T	XP_011543590.1:p.Trp168Leu
XM_011545289.1:c.503G>T	XP_011543591.1:p.Trp168Leu
XM_011545289.2:c.503G>T	XP_011543591.1:p.Trp168Leu
NM_001258392.3:c.503G>T MANE Select	NP_001245321.1:p.Trp168Leu
NM_001258393.3:c.456-22621G>T	NP_001245322.1:n.456-22621G>T
NM_030813.6:c.503G>T MANE Plus Clinical	NP_110440.1:p.Trp168Leu
NM_001258394.3:c.368G>T	NP_001245323.1:p.Trp123Leu