Canonical Allele Identifier: CA2173202572
Community Standard Title: NM_001141980.3(TP53BP1):c.1074C= (p.Asp358=)
Gene: TP53BP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43475576G= , CM000677.2:g.43475576G= GRCh38
NC_000015.9:g.43767774G= , CM000677.1:g.43767774G= GRCh37
NC_000015.8:g.41555066G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001141980.3:c.1074C= MANE Select NP_001135452.1:p.Asp358=
ENST00000382044.9:c.1074C= MANE Select ENSP00000371475.5:p.Asp358=
NM_001141979.1:c.1074C= NP_001135451.1:p.Asp358=
NM_001141979.2:c.1074C= NP_001135451.1:p.Asp358=
NM_001141979.3:c.1074C= NP_001135451.1:p.Asp358=
NM_001141980.1:c.1074C= NP_001135452.1:p.Asp358=
NM_001141980.2:c.1074C= NP_001135452.1:p.Asp358=
NM_001355001.1:c.-1956C= NP_001341930.1:n.-1956C=
NM_001355001.2:c.-1956C= NP_001341930.1:n.-1956C=
NM_005657.2:c.1059C= NP_005648.1:p.Asp353=
NM_005657.3:c.1059C= NP_005648.1:p.Asp353=
NM_005657.4:c.1059C= NP_005648.1:p.Asp353=
ENST00000263801.7:c.1059C= ENSP00000263801.3:p.Asp353=
ENST00000382039.7:c.1074C= ENSP00000371470.3:p.Asp358=
ENST00000382044.8:c.1074C= ENSP00000371475.4:p.Asp358=
ENST00000413546.1:c.1074C= ENSP00000388028.1:p.Asp358=
ENST00000450115.6:c.1074C= ENSP00000393497.2:p.Asp358=
ENST00000572085.5:n.1187C=
XM_011521984.1:c.1059C= XP_011520286.1:p.Asp353=
XM_011521985.1:c.1074C= XP_011520287.1:p.Asp358=
XM_011521985.2:c.1074C= XP_011520287.1:p.Asp358=
XM_011521986.1:c.1074C= XP_011520288.1:p.Asp358=
XM_011521986.3:c.1074C= XP_011520288.1:p.Asp358=
XR_001751382.2:n.1187C=
XR_931898.1:n.1186C=
XR_931899.1:n.1186C=
XR_931899.2:n.1187C=