Canonical Allele Identifier: CA7524945

Gene: TP53BP1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43432448T>G , CM000677.2:g.43432448T>G	GRCh38
NC_000015.9:g.43724646T>G , CM000677.1:g.43724646T>G	GRCh37
NC_000015.8:g.41511938T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382044.9:c.3421A>C MANE Select	ENSP00000371475.5:p.Lys1141Gln
ENST00000263801.7:c.3406A>C	ENSP00000263801.3:p.Lys1136Gln
ENST00000382039.7:c.3421A>C	ENSP00000371470.3:p.Lys1141Gln
ENST00000382044.8:c.3421A>C	ENSP00000371475.4:p.Lys1141Gln
ENST00000411772.5:c.1294A>C
ENST00000417342.1:c.85-4280A>C
ENST00000450115.6:c.3421A>C	ENSP00000393497.2:p.Lys1141Gln
ENST00000572085.5:n.3534A>C
NM_001141979.1:c.3421A>C	NP_001135451.1:p.Lys1141Gln
NM_001141980.1:c.3421A>C	NP_001135452.1:p.Lys1141Gln
NM_005657.2:c.3406A>C	NP_005648.1:p.Lys1136Gln
XM_005254635.3:c.541A>C	XP_005254692.1:p.Lys181Gln
XM_011521984.1:c.3406A>C	XP_011520286.1:p.Lys1136Gln
XM_011521985.1:c.3421A>C	XP_011520287.1:p.Lys1141Gln
XM_011521986.1:c.3421A>C	XP_011520288.1:p.Lys1141Gln
XR_931898.1:n.3533A>C
XR_931899.1:n.3304-4280A>C
NM_001141979.2:c.3421A>C	NP_001135451.1:p.Lys1141Gln
NM_001141980.2:c.3421A>C	NP_001135452.1:p.Lys1141Gln
NM_001355001.1:c.541A>C	NP_001341930.1:p.Lys181Gln
NM_005657.3:c.3406A>C	NP_005648.1:p.Lys1136Gln
XM_011521985.2:c.3421A>C	XP_011520287.1:p.Lys1141Gln
XM_011521986.3:c.3421A>C	XP_011520288.1:p.Lys1141Gln
XR_001751382.2:n.3534A>C
XR_931899.2:n.3305-4280A>C
NM_001141979.3:c.3421A>C	NP_001135451.1:p.Lys1141Gln
NM_001141980.3:c.3421A>C MANE Select	NP_001135452.1:p.Lys1141Gln
NM_001355001.2:c.541A>C	NP_001341930.1:p.Lys181Gln
NM_005657.4:c.3406A>C	NP_005648.1:p.Lys1136Gln