Canonical Allele Identifier: CA6171023

Gene: CLPB

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72293609G>A , CM000673.2:g.72293609G>A	GRCh38
NC_000011.9:g.72004653G>A , CM000673.1:g.72004653G>A	GRCh37
NC_000011.8:g.71682301G>A	NCBI36
NG_042130.1:g.146076C>T
NG_042130.2:g.146076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*1482C>T	ENSP00000443822.2:n.*1482C>T
ENST00000695924.1:n.2661C>T
ENST00000695925.1:n.3373C>T
ENST00000294053.9:c.1882C>T MANE Plus Clinical	ENSP00000294053.3:p.Arg628Cys
ENST00000535477.6:c.*1217C>T	ENSP00000440423.2:n.*1217C>T
ENST00000538039.6:c.1792C>T MANE Select	ENSP00000441518.1:p.Arg598Cys
ENST00000543042.6:c.1837C>T	ENSP00000439746.2:p.Arg613Cys
ENST00000642187.1:c.1300C>T	ENSP00000494594.1:n.1300C>T
ENST00000645105.1:n.1210C>T
ENST00000646359.1:n.970C>T
ENST00000294053.7:c.1882C>T	ENSP00000294053.3:p.Arg628Cys
ENST00000340729.9:c.1705C>T	ENSP00000340385.5:p.Arg569Cys
ENST00000437826.6:c.1747C>T	ENSP00000407296.2:p.Arg583Cys
ENST00000535477.5:c.*212C>T	ENSP00000440423.1:n.*212C>T
ENST00000535990.5:c.1897C>T	ENSP00000443822.1:p.Arg633Cys
ENST00000538021.5:c.809C>T	ENSP00000445180.2:n.809C>T
ENST00000538039.5:c.1792C>T	ENSP00000441518.1:p.Arg598Cys
ENST00000543042.5:c.1279C>T	ENSP00000439746.1:p.Arg427Cys
NM_001258392.1:c.1792C>T	NP_001245321.1:p.Arg598Cys
NM_001258392.2:c.1792C>T	NP_001245321.1:p.Arg598Cys
NM_001258393.1:c.1705C>T	NP_001245322.1:p.Arg569Cys
NM_001258393.2:c.1705C>T	NP_001245322.1:p.Arg569Cys
NM_001258394.1:c.1747C>T	NP_001245323.1:p.Arg583Cys
NM_001258394.2:c.1747C>T	NP_001245323.1:p.Arg583Cys
NM_030813.4:c.1882C>T	NP_110440.1:p.Arg628Cys
NM_030813.5:c.1882C>T	NP_110440.1:p.Arg628Cys
XM_005274320.1:c.1795C>T	XP_005274377.1:p.Arg599Cys
XM_011545288.1:c.1837C>T	XP_011543590.1:p.Arg613Cys
NM_001258392.3:c.1792C>T MANE Select	NP_001245321.1:p.Arg598Cys
NM_001258393.3:c.1705C>T	NP_001245322.1:p.Arg569Cys
NM_030813.6:c.1882C>T MANE Plus Clinical	NP_110440.1:p.Arg628Cys
NM_001258394.3:c.1747C>T	NP_001245323.1:p.Arg583Cys