Canonical Allele Identifier: CA392112131

Gene: TP53BP1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382044.9:c.3421A>T MANE Select	ENSP00000371475.5:p.Lys1141Ter
ENST00000263801.7:c.3406A>T	ENSP00000263801.3:p.Lys1136Ter
ENST00000382039.7:c.3421A>T	ENSP00000371470.3:p.Lys1141Ter
ENST00000382044.8:c.3421A>T	ENSP00000371475.4:p.Lys1141Ter
ENST00000411772.5:c.1294A>T
ENST00000417342.1:c.85-4280A>T
ENST00000450115.6:c.3421A>T	ENSP00000393497.2:p.Lys1141Ter
ENST00000572085.5:n.3534A>T
NM_001141979.1:c.3421A>T	NP_001135451.1:p.Lys1141Ter
NM_001141980.1:c.3421A>T	NP_001135452.1:p.Lys1141Ter
NM_005657.2:c.3406A>T	NP_005648.1:p.Lys1136Ter
XM_005254635.3:c.541A>T	XP_005254692.1:p.Lys181Ter
XM_011521984.1:c.3406A>T	XP_011520286.1:p.Lys1136Ter
XM_011521985.1:c.3421A>T	XP_011520287.1:p.Lys1141Ter
XM_011521986.1:c.3421A>T	XP_011520288.1:p.Lys1141Ter
XR_931898.1:n.3533A>T
XR_931899.1:n.3304-4280A>T
NM_001141979.2:c.3421A>T	NP_001135451.1:p.Lys1141Ter
NM_001141980.2:c.3421A>T	NP_001135452.1:p.Lys1141Ter
NM_001355001.1:c.541A>T	NP_001341930.1:p.Lys181Ter
NM_005657.3:c.3406A>T	NP_005648.1:p.Lys1136Ter
XM_011521985.2:c.3421A>T	XP_011520287.1:p.Lys1141Ter
XM_011521986.3:c.3421A>T	XP_011520288.1:p.Lys1141Ter
XR_001751382.2:n.3534A>T
XR_931899.2:n.3305-4280A>T
NM_001141979.3:c.3421A>T	NP_001135451.1:p.Lys1141Ter
NM_001141980.3:c.3421A>T MANE Select	NP_001135452.1:p.Lys1141Ter
NM_001355001.2:c.541A>T	NP_001341930.1:p.Lys181Ter
NM_005657.4:c.3406A>T	NP_005648.1:p.Lys1136Ter