Canonical Allele Identifier: CA381725454
Gene: CLPB HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000535990.6:c.*1443G>T ENSP00000443822.2:n.*1443G>T
ENST00000695924.1:n.2622G>T
ENST00000695925.1:n.3334G>T
ENST00000294053.9:c.1843G>T MANE Plus Clinical ENSP00000294053.3:p.Val615Leu
ENST00000535477.6:c.*1178G>T ENSP00000440423.2:n.*1178G>T
ENST00000538039.6:c.1753G>T MANE Select ENSP00000441518.1:p.Val585Leu
ENST00000543042.6:c.1798G>T ENSP00000439746.2:p.Val600Leu
ENST00000642187.1:c.1261G>T ENSP00000494594.1:n.1261G>T
ENST00000645105.1:n.1171G>T
ENST00000646359.1:n.931G>T
ENST00000294053.7:c.1843G>T ENSP00000294053.3:p.Val615Leu
ENST00000340729.9:c.1666G>T ENSP00000340385.5:p.Val556Leu
ENST00000437826.6:c.1708G>T ENSP00000407296.2:p.Val570Leu
ENST00000535477.5:c.*173G>T ENSP00000440423.1:n.*173G>T
ENST00000535990.5:c.1858G>T ENSP00000443822.1:p.Val620Leu
ENST00000538021.5:c.770G>T ENSP00000445180.2:n.770G>T
ENST00000538039.5:c.1753G>T ENSP00000441518.1:p.Val585Leu
ENST00000543042.5:c.1240G>T ENSP00000439746.1:p.Val414Leu
NM_001258392.1:c.1753G>T NP_001245321.1:p.Val585Leu
NM_001258392.2:c.1753G>T NP_001245321.1:p.Val585Leu
NM_001258393.1:c.1666G>T NP_001245322.1:p.Val556Leu
NM_001258393.2:c.1666G>T NP_001245322.1:p.Val556Leu
NM_001258394.1:c.1708G>T NP_001245323.1:p.Val570Leu
NM_001258394.2:c.1708G>T NP_001245323.1:p.Val570Leu
NM_030813.4:c.1843G>T NP_110440.1:p.Val615Leu
NM_030813.5:c.1843G>T NP_110440.1:p.Val615Leu
XM_005274320.1:c.1756G>T XP_005274377.1:p.Val586Leu
XM_011545288.1:c.1798G>T XP_011543590.1:p.Val600Leu
NM_001258392.3:c.1753G>T MANE Select NP_001245321.1:p.Val585Leu
NM_001258393.3:c.1666G>T NP_001245322.1:p.Val556Leu
NM_030813.6:c.1843G>T MANE Plus Clinical NP_110440.1:p.Val615Leu
NM_001258394.3:c.1708G>T NP_001245323.1:p.Val570Leu