Canonical Allele Identifier: CA6171021

Gene: CLPB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72293606G>A , CM000673.2:g.72293606G>A	GRCh38
NC_000011.9:g.72004650G>A , CM000673.1:g.72004650G>A	GRCh37
NC_000011.8:g.71682298G>A	NCBI36
NG_042130.1:g.146079C>T
NG_042130.2:g.146079C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001258392.3:c.1795C>T MANE Select	NP_001245321.1:p.Arg599Cys
ENST00000538039.6:c.1795C>T MANE Select	ENSP00000441518.1:p.Arg599Cys
NM_030813.6:c.1885C>T MANE Plus Clinical	NP_110440.1:p.Arg629Cys
ENST00000294053.9:c.1885C>T MANE Plus Clinical	ENSP00000294053.3:p.Arg629Cys
NM_001258392.1:c.1795C>T	NP_001245321.1:p.Arg599Cys
NM_001258392.2:c.1795C>T	NP_001245321.1:p.Arg599Cys
NM_001258393.1:c.1708C>T	NP_001245322.1:p.Arg570Cys
NM_001258393.2:c.1708C>T	NP_001245322.1:p.Arg570Cys
NM_001258393.3:c.1708C>T	NP_001245322.1:p.Arg570Cys
NM_001258394.1:c.1750C>T	NP_001245323.1:p.Arg584Cys
NM_001258394.2:c.1750C>T	NP_001245323.1:p.Arg584Cys
NM_001258394.3:c.1750C>T	NP_001245323.1:p.Arg584Cys
NM_030813.4:c.1885C>T	NP_110440.1:p.Arg629Cys
NM_030813.5:c.1885C>T	NP_110440.1:p.Arg629Cys
ENST00000294053.7:c.1885C>T	ENSP00000294053.3:p.Arg629Cys
ENST00000340729.9:c.1708C>T	ENSP00000340385.5:p.Arg570Cys
ENST00000437826.6:c.1750C>T	ENSP00000407296.2:p.Arg584Cys
ENST00000535477.5:c.*215C>T	ENSP00000440423.1:n.*215C>T
ENST00000535477.6:c.*1220C>T	ENSP00000440423.2:n.*1220C>T
ENST00000535990.5:c.1900C>T	ENSP00000443822.1:p.Arg634Cys
ENST00000535990.6:c.*1485C>T	ENSP00000443822.2:n.*1485C>T
ENST00000538021.5:c.812C>T	ENSP00000445180.2:n.812C>T
ENST00000538039.5:c.1795C>T	ENSP00000441518.1:p.Arg599Cys
ENST00000543042.5:c.1282C>T	ENSP00000439746.1:p.Arg428Cys
ENST00000543042.6:c.1840C>T	ENSP00000439746.2:p.Arg614Cys
ENST00000642187.1:c.1303C>T	ENSP00000494594.1:n.1303C>T
ENST00000645105.1:n.1213C>T
ENST00000646359.1:n.973C>T
ENST00000695924.1:n.2664C>T
ENST00000695925.1:n.3376C>T
XM_005274320.1:c.1798C>T	XP_005274377.1:p.Arg600Cys
XM_011545288.1:c.1840C>T	XP_011543590.1:p.Arg614Cys