Canonical Allele Identifier: CA392158868

Gene: TP53BP1

Linked Data

• ClinVar Variation Id: 1334467
• ClinVar RCV Id: RCV001814650
• dbSNP Id: rs2142992080
• MyVariant Identifiers: chr15:g.43714052C>T (hg19) ; chr15:g.43421854C>T (hg38)
• MutSpliceDB: CA392158868

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43421854C>T , CM000677.2:g.43421854C>T	GRCh38
NC_000015.9:g.43714052C>T , CM000677.1:g.43714052C>T	GRCh37
NC_000015.8:g.41501344C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382044.9:c.4100+1G>A MANE Select	ENSP00000371475.5:n.4100+1G>A
ENST00000263801.7:c.4085+1G>A	ENSP00000263801.3:n.4085+1G>A
ENST00000382039.7:c.4100+1G>A	ENSP00000371470.3:n.4100+1G>A
ENST00000382044.8:c.4100+1G>A	ENSP00000371475.4:n.4100+1G>A
ENST00000411772.5:c.1973+1G>A
ENST00000417342.1:c.509+1G>A
ENST00000450115.6:c.4100+1G>A	ENSP00000393497.2:n.4100+1G>A
ENST00000467474.1:c.374G>A
ENST00000572085.5:n.4213+1G>A
NM_001141979.1:c.4100+1G>A	NP_001135451.1:n.4100+1G>A
NM_001141980.1:c.4100+1G>A	NP_001135452.1:n.4100+1G>A
NM_005657.2:c.4085+1G>A	NP_005648.1:n.4085+1G>A
XM_005254635.3:c.1220+1G>A	XP_005254692.1:n.1220+1G>A
XM_011521984.1:c.4085+1G>A	XP_011520286.1:n.4085+1G>A
XM_011521985.1:c.4100+1G>A	XP_011520287.1:n.4100+1G>A
XM_011521986.1:c.4100+1G>A	XP_011520288.1:n.4100+1G>A
XR_931898.1:n.4212+1G>A
XR_931899.1:n.3728+1G>A
NM_001141979.2:c.4100+1G>A	NP_001135451.1:n.4100+1G>A
NM_001141980.2:c.4100+1G>A	NP_001135452.1:n.4100+1G>A
NM_001355001.1:c.1220+1G>A	NP_001341930.1:n.1220+1G>A
NM_005657.3:c.4085+1G>A	NP_005648.1:n.4085+1G>A
XM_011521985.2:c.4100+1G>A	XP_011520287.1:n.4100+1G>A
XM_011521986.3:c.4100+1G>A	XP_011520288.1:n.4100+1G>A
XR_001751382.2:n.4213+1G>A
XR_931899.2:n.3729+1G>A
NM_001141979.3:c.4100+1G>A	NP_001135451.1:n.4100+1G>A
NM_001141980.3:c.4100+1G>A MANE Select	NP_001135452.1:n.4100+1G>A
NM_001355001.2:c.1220+1G>A	NP_001341930.1:n.1220+1G>A
NM_005657.4:c.4085+1G>A	NP_005648.1:n.4085+1G>A