Canonical Allele Identifier: CA6171005

Gene: CLPB

Linked Data

• ClinVar Variation Id: 380519
• ClinVar RCV Id: RCV000444246 ; RCV000546945 ; RCV003970139
• dbSNP Id: rs35401939
• ExAC: 11:72004585 G / A
• gnomAD v2: 11-72004585-G-A
• gnomAD v3: 11-72293541-G-A
• gnomAD v4: 11-72293541-G-A
• MyVariant Identifiers: chr11:g.72004585G>A (hg19) ; chr11:g.72293541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72293541G>A , CM000673.2:g.72293541G>A	GRCh38
NC_000011.9:g.72004585G>A , CM000673.1:g.72004585G>A	GRCh37
NC_000011.8:g.71682233G>A	NCBI36
NG_042130.1:g.146144C>T
NG_042130.2:g.146144C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*1550C>T	ENSP00000443822.2:n.*1550C>T
ENST00000695924.1:n.2729C>T
ENST00000695925.1:n.3441C>T
ENST00000294053.9:c.1950C>T MANE Plus Clinical	ENSP00000294053.3:p.Arg650=
ENST00000535477.6:c.*1285C>T	ENSP00000440423.2:n.*1285C>T
ENST00000538039.6:c.1860C>T MANE Select	ENSP00000441518.1:p.Arg620=
ENST00000543042.6:c.1905C>T	ENSP00000439746.2:p.Arg635=
ENST00000642187.1:c.1368C>T	ENSP00000494594.1:n.1368C>T
ENST00000645105.1:n.1278C>T
ENST00000646359.1:n.1038C>T
ENST00000294053.7:c.1950C>T	ENSP00000294053.3:p.Arg650=
ENST00000340729.9:c.1773C>T	ENSP00000340385.5:p.Arg591=
ENST00000437826.6:c.1815C>T	ENSP00000407296.2:p.Arg605=
ENST00000535477.5:c.*280C>T	ENSP00000440423.1:n.*280C>T
ENST00000535990.5:c.1965C>T	ENSP00000443822.1:p.Arg655=
ENST00000538021.5:c.877C>T	ENSP00000445180.2:n.877C>T
ENST00000538039.5:c.1860C>T	ENSP00000441518.1:p.Arg620=
ENST00000543042.5:c.1347C>T	ENSP00000439746.1:p.Arg449=
NM_001258392.1:c.1860C>T	NP_001245321.1:p.Arg620=
NM_001258392.2:c.1860C>T	NP_001245321.1:p.Arg620=
NM_001258393.1:c.1773C>T	NP_001245322.1:p.Arg591=
NM_001258393.2:c.1773C>T	NP_001245322.1:p.Arg591=
NM_001258394.1:c.1815C>T	NP_001245323.1:p.Arg605=
NM_001258394.2:c.1815C>T	NP_001245323.1:p.Arg605=
NM_030813.4:c.1950C>T	NP_110440.1:p.Arg650=
NM_030813.5:c.1950C>T	NP_110440.1:p.Arg650=
XM_005274320.1:c.1863C>T	XP_005274377.1:p.Arg621=
XM_011545288.1:c.1905C>T	XP_011543590.1:p.Arg635=
NM_001258392.3:c.1860C>T MANE Select	NP_001245321.1:p.Arg620=
NM_001258393.3:c.1773C>T	NP_001245322.1:p.Arg591=
NM_030813.6:c.1950C>T MANE Plus Clinical	NP_110440.1:p.Arg650=
NM_001258394.3:c.1815C>T	NP_001245323.1:p.Arg605=