Canonical Allele Identifier: CA7525495

Gene: TP53BP1

Linked Data

• dbSNP Id: rs560191
• ExAC: 15:43767774 G / T
• gnomAD v2: 15-43767774-G-T
• gnomAD v3: 15-43475576-G-T
• gnomAD v4: 15-43475576-G-T
• MyVariant Identifiers: chr15:g.43767774G>T (hg19) ; chr15:g.43475576G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000382044.9:c.1074C>A MANE Select	ENSP00000371475.5:p.Asp358Glu
ENST00000263801.7:c.1059C>A	ENSP00000263801.3:p.Asp353Glu
ENST00000382039.7:c.1074C>A	ENSP00000371470.3:p.Asp358Glu
ENST00000382044.8:c.1074C>A	ENSP00000371475.4:p.Asp358Glu
ENST00000413546.1:c.1074C>A	ENSP00000388028.1:p.Asp358Glu
ENST00000450115.6:c.1074C>A	ENSP00000393497.2:p.Asp358Glu
ENST00000572085.5:n.1187C>A
NM_001141979.1:c.1074C>A	NP_001135451.1:p.Asp358Glu
NM_001141980.1:c.1074C>A	NP_001135452.1:p.Asp358Glu
NM_005657.2:c.1059C>A	NP_005648.1:p.Asp353Glu
XM_011521984.1:c.1059C>A	XP_011520286.1:p.Asp353Glu
XM_011521985.1:c.1074C>A	XP_011520287.1:p.Asp358Glu
XM_011521986.1:c.1074C>A	XP_011520288.1:p.Asp358Glu
XR_931898.1:n.1186C>A
XR_931899.1:n.1186C>A
NM_001141979.2:c.1074C>A	NP_001135451.1:p.Asp358Glu
NM_001141980.2:c.1074C>A	NP_001135452.1:p.Asp358Glu
NM_001355001.1:c.-1956C>A	NP_001341930.1:n.-1956C>A
NM_005657.3:c.1059C>A	NP_005648.1:p.Asp353Glu
XM_011521985.2:c.1074C>A	XP_011520287.1:p.Asp358Glu
XM_011521986.3:c.1074C>A	XP_011520288.1:p.Asp358Glu
XR_001751382.2:n.1187C>A
XR_931899.2:n.1187C>A
NM_001141979.3:c.1074C>A	NP_001135451.1:p.Asp358Glu
NM_001141980.3:c.1074C>A MANE Select	NP_001135452.1:p.Asp358Glu
NM_001355001.2:c.-1956C>A	NP_001341930.1:n.-1956C>A
NM_005657.4:c.1059C>A	NP_005648.1:p.Asp353Glu