Canonical Allele Identifier: CA6171467

Gene: CLPB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72372932G>A , CM000673.2:g.72372932G>A	GRCh38
NC_000011.9:g.72083976G>A , CM000673.1:g.72083976G>A	GRCh37
NC_000011.8:g.71761624G>A	NCBI36
NG_042130.1:g.66753C>T
NG_042130.2:g.66753C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001258392.3:c.646+7349C>T MANE Select	NP_001245321.1:n.646+7349C>T
ENST00000538039.6:c.646+7349C>T MANE Select	ENSP00000441518.1:n.646+7349C>T
NM_030813.6:c.729C>T MANE Plus Clinical	NP_110440.1:p.Pro243=
ENST00000294053.9:c.729C>T MANE Plus Clinical	ENSP00000294053.3:p.Pro243=
NM_001258392.1:c.646+7349C>T	NP_001245321.1:n.646+7349C>T
NM_001258392.2:c.646+7349C>T	NP_001245321.1:n.646+7349C>T
NM_001258393.1:c.559+7349C>T	NP_001245322.1:n.559+7349C>T
NM_001258393.2:c.559+7349C>T	NP_001245322.1:n.559+7349C>T
NM_001258393.3:c.559+7349C>T	NP_001245322.1:n.559+7349C>T
NM_001258394.1:c.594C>T	NP_001245323.1:p.Pro198=
NM_001258394.2:c.594C>T	NP_001245323.1:p.Pro198=
NM_001258394.3:c.594C>T	NP_001245323.1:p.Pro198=
NM_030813.4:c.729C>T	NP_110440.1:p.Pro243=
NM_030813.5:c.729C>T	NP_110440.1:p.Pro243=
ENST00000294053.7:c.729C>T	ENSP00000294053.3:p.Pro243=
ENST00000340729.9:c.559+7349C>T	ENSP00000340385.5:n.559+7349C>T
ENST00000437826.6:c.594C>T	ENSP00000407296.2:p.Pro198=
ENST00000445069.4:n.556C>T
ENST00000535477.5:c.646+7349C>T	ENSP00000440423.1:n.646+7349C>T
ENST00000535477.6:c.*71+7349C>T	ENSP00000440423.2:n.*71+7349C>T
ENST00000535990.5:c.744C>T	ENSP00000443822.1:p.Pro248=
ENST00000535990.6:c.*329C>T	ENSP00000443822.2:n.*329C>T
ENST00000536297.1:c.105C>T
ENST00000538039.5:c.646+7349C>T	ENSP00000441518.1:n.646+7349C>T
ENST00000539148.3:c.291C>T	ENSP00000445327.1:p.Pro97=
ENST00000543042.5:c.133+7349C>T	ENSP00000439746.1:n.133+7349C>T
ENST00000543042.6:c.729C>T	ENSP00000439746.2:p.Pro243=
ENST00000544683.5:c.208+7349C>T	ENSP00000442651.1:n.208+7349C>T
ENST00000642187.1:c.46+7349C>T	ENSP00000494594.1:n.46+7349C>T
ENST00000642288.1:c.133+7349C>T	ENSP00000495167.1:n.133+7349C>T
ENST00000646117.1:c.729C>T	ENSP00000495421.1:p.Pro243=
ENST00000695924.1:n.717+7349C>T
ENST00000695925.1:n.717+7349C>T
ENST00000695926.1:n.717+7349C>T
XM_005274320.1:c.642C>T	XP_005274377.1:p.Pro214=
XM_011545288.1:c.729C>T	XP_011543590.1:p.Pro243=
XM_011545289.1:c.729C>T	XP_011543591.1:p.Pro243=
XM_011545289.2:c.729C>T	XP_011543591.1:p.Pro243=