Canonical Allele Identifier: CA392136527

Gene: TP53BP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43469998C>G , CM000677.2:g.43469998C>G	GRCh38
NC_000015.9:g.43762196C>G , CM000677.1:g.43762196C>G	GRCh37
NC_000015.8:g.41549488C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001141980.3:c.1249G>C MANE Select	NP_001135452.1:p.Gly417Arg
ENST00000382044.9:c.1249G>C MANE Select	ENSP00000371475.5:p.Gly417Arg
NM_001141979.1:c.1249G>C	NP_001135451.1:p.Gly417Arg
NM_001141979.2:c.1249G>C	NP_001135451.1:p.Gly417Arg
NM_001141979.3:c.1249G>C	NP_001135451.1:p.Gly417Arg
NM_001141980.1:c.1249G>C	NP_001135452.1:p.Gly417Arg
NM_001141980.2:c.1249G>C	NP_001135452.1:p.Gly417Arg
NM_001355001.1:c.-1781G>C	NP_001341930.1:n.-1781G>C
NM_001355001.2:c.-1781G>C	NP_001341930.1:n.-1781G>C
NM_005657.2:c.1234G>C	NP_005648.1:p.Gly412Arg
NM_005657.3:c.1234G>C	NP_005648.1:p.Gly412Arg
NM_005657.4:c.1234G>C	NP_005648.1:p.Gly412Arg
ENST00000263801.7:c.1234G>C	ENSP00000263801.3:p.Gly412Arg
ENST00000382039.7:c.1249G>C	ENSP00000371470.3:p.Gly417Arg
ENST00000382044.8:c.1249G>C	ENSP00000371475.4:p.Gly417Arg
ENST00000413546.1:c.1249G>C	ENSP00000388028.1:p.Gly417Arg
ENST00000450115.6:c.1249G>C	ENSP00000393497.2:p.Gly417Arg
ENST00000572085.5:n.1362G>C
XM_011521984.1:c.1234G>C	XP_011520286.1:p.Gly412Arg
XM_011521985.1:c.1249G>C	XP_011520287.1:p.Gly417Arg
XM_011521985.2:c.1249G>C	XP_011520287.1:p.Gly417Arg
XM_011521986.1:c.1249G>C	XP_011520288.1:p.Gly417Arg
XM_011521986.3:c.1249G>C	XP_011520288.1:p.Gly417Arg
XR_001751382.2:n.1362G>C
XR_931898.1:n.1361G>C
XR_931899.1:n.1361G>C
XR_931899.2:n.1362G>C