Canonical Allele Identifier: CA2739278816

Gene: TP53BP1 TUBGCP4

Linked Data

• ClinVar Variation Id: 2810591
• ClinVar RCV Id: RCV003682507

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43404393C>G , CM000677.2:g.43404393C>G	GRCh38
NC_000015.9:g.43696591C>G , CM000677.1:g.43696591C>G	GRCh37
NC_000015.8:g.41483883C>G	NCBI36
NG_042168.1:g.38335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382044.9:c.*2990G>C (TP53BP1) MANE Select	ENSP00000371475.5:n.*2990G>C
ENST00000564079.6:c.1849-20C>G (TUBGCP4) MANE Select	ENSP00000456648.2:n.1849-20C>G
ENST00000260383.11:c.1852-20C>G (TUBGCP4)	ENSP00000260383.7:n.1852-20C>G
ENST00000382044.8:c.*2990G>C (TP53BP1)	ENSP00000371475.4:n.*2990G>C
ENST00000561691.5:c.1671-20C>G (TUBGCP4)
ENST00000563147.5:c.364-20C>G (TUBGCP4)	ENSP00000454915.1:n.364-20C>G
ENST00000563963.1:n.4118-20C>G (TUBGCP4)
ENST00000564079.5:c.1849-20C>G (TUBGCP4)	ENSP00000456648.1:n.1849-20C>G
ENST00000565548.1:c.163-20C>G (TUBGCP4)	ENSP00000456550.1:n.163-20C>G
ENST00000566251.1:c.194-20C>G (TUBGCP4)	ENSP00000455555.1:n.194-20C>G
NM_001286414.1:c.1852-20C>G (TUBGCP4)	NP_001273343.1:n.1852-20C>G
NM_001286414.2:c.1852-20C>G (TUBGCP4)	NP_001273343.1:n.1852-20C>G
NM_014444.3:c.1849-20C>G (TUBGCP4)	NP_055259.2:n.1849-20C>G
NM_014444.4:c.1849-20C>G (TUBGCP4)	NP_055259.2:n.1849-20C>G
XM_005254635.3:c.*2990G>C (TP53BP1)	XP_005254692.1:n.*2990G>C
XM_011521453.1:c.1801-20C>G (TUBGCP4)	XP_011519755.1:n.1801-20C>G
XM_011521454.1:c.1735-20C>G (TUBGCP4)	XP_011519756.1:n.1735-20C>G
XM_011521455.1:c.1444-20C>G (TUBGCP4)	XP_011519757.1:n.1444-20C>G
XM_011521984.1:c.*2990G>C (TP53BP1)	XP_011520286.1:n.*2990G>C
XM_011521985.1:c.*2990G>C (TP53BP1)	XP_011520287.1:n.*2990G>C
XR_243092.2:n.2211-20C>G (TUBGCP4)
NM_001141979.2:c.*2990G>C (TP53BP1)	NP_001135451.1:n.*2990G>C
NM_001141980.2:c.*2990G>C (TP53BP1)	NP_001135452.1:n.*2990G>C
NM_001355001.1:c.*2990G>C (TP53BP1)	NP_001341930.1:n.*2990G>C
NM_005657.3:c.*2990G>C (TP53BP1)	NP_005648.1:n.*2990G>C
XM_011521454.3:c.1735-20C>G (TUBGCP4)	XP_011519756.1:n.1735-20C>G
XM_011521455.2:c.1444-20C>G (TUBGCP4)	XP_011519757.1:n.1444-20C>G
XM_011521985.2:c.*2990G>C (TP53BP1)	XP_011520287.1:n.*2990G>C
XM_017022078.2:c.1732-20C>G (TUBGCP4)	XP_016877567.1:n.1732-20C>G
XR_001751226.2:n.2077-20C>G (TUBGCP4)
XR_001751382.2:n.9205G>C (TP53BP1)
XR_243092.4:n.2194-20C>G (TUBGCP4)
NM_001141979.3:c.*2990G>C (TP53BP1)	NP_001135451.1:n.*2990G>C
NM_001141980.3:c.*2990G>C (TP53BP1) MANE Select	NP_001135452.1:n.*2990G>C
NM_001286414.3:c.1852-20C>G (TUBGCP4)	NP_001273343.1:n.1852-20C>G
NM_001355001.2:c.*2990G>C (TP53BP1)	NP_001341930.1:n.*2990G>C
NM_005657.4:c.*2990G>C (TP53BP1)	NP_005648.1:n.*2990G>C
NM_014444.5:c.1849-20C>G (TUBGCP4) MANE Select	NP_055259.2:n.1849-20C>G