Canonical Allele Identifier: CA381725460

Gene: CLPB

Linked Data

• dbSNP Id: rs1454565839
• gnomAD v2: 11-72005098-C-T
• gnomAD v4: 11-72294054-C-T
• MyVariant Identifiers: chr11:g.72005098C>T (hg19) ; chr11:g.72294054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72294054C>T , CM000673.2:g.72294054C>T	GRCh38
NC_000011.9:g.72005098C>T , CM000673.1:g.72005098C>T	GRCh37
NC_000011.8:g.71682746C>T	NCBI36
NG_042130.1:g.145631G>A
NG_042130.2:g.145631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535990.6:c.*1443G>A	ENSP00000443822.2:n.*1443G>A
ENST00000695924.1:n.2622G>A
ENST00000695925.1:n.3334G>A
ENST00000294053.9:c.1843G>A MANE Plus Clinical	ENSP00000294053.3:p.Val615Met
ENST00000535477.6:c.*1178G>A	ENSP00000440423.2:n.*1178G>A
ENST00000538039.6:c.1753G>A MANE Select	ENSP00000441518.1:p.Val585Met
ENST00000543042.6:c.1798G>A	ENSP00000439746.2:p.Val600Met
ENST00000642187.1:c.1261G>A	ENSP00000494594.1:n.1261G>A
ENST00000645105.1:n.1171G>A
ENST00000646359.1:n.931G>A
ENST00000294053.7:c.1843G>A	ENSP00000294053.3:p.Val615Met
ENST00000340729.9:c.1666G>A	ENSP00000340385.5:p.Val556Met
ENST00000437826.6:c.1708G>A	ENSP00000407296.2:p.Val570Met
ENST00000535477.5:c.*173G>A	ENSP00000440423.1:n.*173G>A
ENST00000535990.5:c.1858G>A	ENSP00000443822.1:p.Val620Met
ENST00000538021.5:c.770G>A	ENSP00000445180.2:n.770G>A
ENST00000538039.5:c.1753G>A	ENSP00000441518.1:p.Val585Met
ENST00000543042.5:c.1240G>A	ENSP00000439746.1:p.Val414Met
NM_001258392.1:c.1753G>A	NP_001245321.1:p.Val585Met
NM_001258392.2:c.1753G>A	NP_001245321.1:p.Val585Met
NM_001258393.1:c.1666G>A	NP_001245322.1:p.Val556Met
NM_001258393.2:c.1666G>A	NP_001245322.1:p.Val556Met
NM_001258394.1:c.1708G>A	NP_001245323.1:p.Val570Met
NM_001258394.2:c.1708G>A	NP_001245323.1:p.Val570Met
NM_030813.4:c.1843G>A	NP_110440.1:p.Val615Met
NM_030813.5:c.1843G>A	NP_110440.1:p.Val615Met
XM_005274320.1:c.1756G>A	XP_005274377.1:p.Val586Met
XM_011545288.1:c.1798G>A	XP_011543590.1:p.Val600Met
NM_001258392.3:c.1753G>A MANE Select	NP_001245321.1:p.Val585Met
NM_001258393.3:c.1666G>A	NP_001245322.1:p.Val556Met
NM_030813.6:c.1843G>A MANE Plus Clinical	NP_110440.1:p.Val615Met
NM_001258394.3:c.1708G>A	NP_001245323.1:p.Val570Met