Canonical Allele Identifier: CA392139398

Gene: TP53BP1 TUBGCP4

Linked Data

• ClinVar Variation Id: 1046474
• ClinVar RCV Id: RCV001351038
• dbSNP Id: rs1263645431
• gnomAD v3: 15-43403711-A-C
• gnomAD v4: 15-43403711-A-C
• MyVariant Identifiers: chr15:g.43695909A>C (hg19) ; chr15:g.43403711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43403711A>C , CM000677.2:g.43403711A>C	GRCh38
NC_000015.9:g.43695909A>C , CM000677.1:g.43695909A>C	GRCh37
NC_000015.8:g.41483201A>C	NCBI36
NG_042168.1:g.37653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382044.9:c.*3672T>G (TP53BP1) MANE Select	ENSP00000371475.5:n.*3672T>G
ENST00000564079.6:c.1760A>C (TUBGCP4) MANE Select	ENSP00000456648.2:p.Asp587Ala
ENST00000260383.11:c.1763A>C (TUBGCP4)	ENSP00000260383.7:p.Asp588Ala
ENST00000382044.8:c.*3672T>G (TP53BP1)	ENSP00000371475.4:n.*3672T>G
ENST00000561691.5:c.1582A>C (TUBGCP4)
ENST00000563147.5:c.364-702A>C (TUBGCP4)	ENSP00000454915.1:n.364-702A>C
ENST00000563963.1:n.4029A>C (TUBGCP4)
ENST00000564079.5:c.1760A>C (TUBGCP4)	ENSP00000456648.1:p.Asp587Ala
ENST00000565548.1:c.74A>C (TUBGCP4)	ENSP00000456550.1:p.Asp25Ala
ENST00000566251.1:c.62A>C (TUBGCP4)	ENSP00000455555.1:p.Asp21Ala
NM_001286414.1:c.1763A>C (TUBGCP4)	NP_001273343.1:p.Asp588Ala
NM_001286414.2:c.1763A>C (TUBGCP4)	NP_001273343.1:p.Asp588Ala
NM_014444.3:c.1760A>C (TUBGCP4)	NP_055259.2:p.Asp587Ala
NM_014444.4:c.1760A>C (TUBGCP4)	NP_055259.2:p.Asp587Ala
XM_005254635.3:c.*3672T>G (TP53BP1)	XP_005254692.1:n.*3672T>G
XM_011521453.1:c.1712A>C (TUBGCP4)	XP_011519755.1:p.Asp571Ala
XM_011521454.1:c.1735-702A>C (TUBGCP4)	XP_011519756.1:n.1735-702A>C
XM_011521455.1:c.1355A>C (TUBGCP4)	XP_011519757.1:p.Asp452Ala
XM_011521984.1:c.*3672T>G (TP53BP1)	XP_011520286.1:n.*3672T>G
XM_011521985.1:c.*3672T>G (TP53BP1)	XP_011520287.1:n.*3672T>G
XR_243092.2:n.2122A>C (TUBGCP4)
NM_001141979.2:c.*3672T>G (TP53BP1)	NP_001135451.1:n.*3672T>G
NM_001141980.2:c.*3672T>G (TP53BP1)	NP_001135452.1:n.*3672T>G
NM_001355001.1:c.*3672T>G (TP53BP1)	NP_001341930.1:n.*3672T>G
NM_005657.3:c.*3672T>G (TP53BP1)	NP_005648.1:n.*3672T>G
XM_011521454.3:c.1735-702A>C (TUBGCP4)	XP_011519756.1:n.1735-702A>C
XM_011521455.2:c.1355A>C (TUBGCP4)	XP_011519757.1:p.Asp452Ala
XM_011521985.2:c.*3672T>G (TP53BP1)	XP_011520287.1:n.*3672T>G
XM_017022078.2:c.1732-702A>C (TUBGCP4)	XP_016877567.1:n.1732-702A>C
XR_001751226.2:n.2077-702A>C (TUBGCP4)
XR_001751382.2:n.9887T>G (TP53BP1)
XR_243092.4:n.2105A>C (TUBGCP4)
NM_001141979.3:c.*3672T>G (TP53BP1)	NP_001135451.1:n.*3672T>G
NM_001141980.3:c.*3672T>G (TP53BP1) MANE Select	NP_001135452.1:n.*3672T>G
NM_001286414.3:c.1763A>C (TUBGCP4)	NP_001273343.1:p.Asp588Ala
NM_001355001.2:c.*3672T>G (TP53BP1)	NP_001341930.1:n.*3672T>G
NM_005657.4:c.*3672T>G (TP53BP1)	NP_005648.1:n.*3672T>G
NM_014444.5:c.1760A>C (TUBGCP4) MANE Select	NP_055259.2:p.Asp587Ala