Canonical Allele Identifier: CA224385461
Gene: CLPB HGNC NCBI

Linked Data

dbSNP Id: rs10548

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72294058G>A , CM000673.2:g.72294058G>A GRCh38
NC_000011.9:g.72005102G>A , CM000673.1:g.72005102G>A GRCh37
NC_000011.8:g.71682750G>A NCBI36
NG_042130.1:g.145627C>T
NG_042130.2:g.145627C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000535990.6:c.*1439C>T ENSP00000443822.2:n.*1439C>T
ENST00000695924.1:n.2618C>T
ENST00000695925.1:n.3330C>T
ENST00000294053.9:c.1839C>T MANE Plus Clinical ENSP00000294053.3:p.Tyr613=
ENST00000535477.6:c.*1174C>T ENSP00000440423.2:n.*1174C>T
ENST00000538039.6:c.1749C>T MANE Select ENSP00000441518.1:p.Tyr583=
ENST00000543042.6:c.1794C>T ENSP00000439746.2:p.Tyr598=
ENST00000642187.1:c.1257C>T ENSP00000494594.1:n.1257C>T
ENST00000645105.1:n.1167C>T
ENST00000646359.1:n.927C>T
ENST00000294053.7:c.1839C>T ENSP00000294053.3:p.Tyr613=
ENST00000340729.9:c.1662C>T ENSP00000340385.5:p.Tyr554=
ENST00000437826.6:c.1704C>T ENSP00000407296.2:p.Tyr568=
ENST00000535477.5:c.*169C>T ENSP00000440423.1:n.*169C>T
ENST00000535990.5:c.1854C>T ENSP00000443822.1:p.Tyr618=
ENST00000538021.5:c.766C>T ENSP00000445180.2:n.766C>T
ENST00000538039.5:c.1749C>T ENSP00000441518.1:p.Tyr583=
ENST00000543042.5:c.1236C>T ENSP00000439746.1:p.Tyr412=
NM_001258392.1:c.1749C>T NP_001245321.1:p.Tyr583=
NM_001258392.2:c.1749C>T NP_001245321.1:p.Tyr583=
NM_001258393.1:c.1662C>T NP_001245322.1:p.Tyr554=
NM_001258393.2:c.1662C>T NP_001245322.1:p.Tyr554=
NM_001258394.1:c.1704C>T NP_001245323.1:p.Tyr568=
NM_001258394.2:c.1704C>T NP_001245323.1:p.Tyr568=
NM_030813.4:c.1839C>T NP_110440.1:p.Tyr613=
NM_030813.5:c.1839C>T NP_110440.1:p.Tyr613=
XM_005274320.1:c.1752C>T XP_005274377.1:p.Tyr584=
XM_011545288.1:c.1794C>T XP_011543590.1:p.Tyr598=
NM_001258392.3:c.1749C>T MANE Select NP_001245321.1:p.Tyr583=
NM_001258393.3:c.1662C>T NP_001245322.1:p.Tyr554=
NM_030813.6:c.1839C>T MANE Plus Clinical NP_110440.1:p.Tyr613=
NM_001258394.3:c.1704C>T NP_001245323.1:p.Tyr568=