Canonical Allele Identifier: CA392139666

Gene: TP53BP1 TUBGCP4

Linked Data

• MyVariant Identifiers: chr15:g.43695935G>C (hg19) ; chr15:g.43403737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43403737G>C , CM000677.2:g.43403737G>C	GRCh38
NC_000015.9:g.43695935G>C , CM000677.1:g.43695935G>C	GRCh37
NC_000015.8:g.41483227G>C	NCBI36
NG_042168.1:g.37679G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382044.9:c.*3646C>G (TP53BP1) MANE Select	ENSP00000371475.5:n.*3646C>G
ENST00000564079.6:c.1786G>C (TUBGCP4) MANE Select	ENSP00000456648.2:p.Val596Leu
ENST00000260383.11:c.1789G>C (TUBGCP4)	ENSP00000260383.7:p.Val597Leu
ENST00000382044.8:c.*3646C>G (TP53BP1)	ENSP00000371475.4:n.*3646C>G
ENST00000561691.5:c.1608G>C (TUBGCP4)
ENST00000563147.5:c.364-676G>C (TUBGCP4)	ENSP00000454915.1:n.364-676G>C
ENST00000563963.1:n.4055G>C (TUBGCP4)
ENST00000564079.5:c.1786G>C (TUBGCP4)	ENSP00000456648.1:p.Val596Leu
ENST00000565548.1:c.100G>C (TUBGCP4)	ENSP00000456550.1:p.Val34Leu
ENST00000566251.1:c.88G>C (TUBGCP4)	ENSP00000455555.1:p.Val30Leu
NM_001286414.1:c.1789G>C (TUBGCP4)	NP_001273343.1:p.Val597Leu
NM_001286414.2:c.1789G>C (TUBGCP4)	NP_001273343.1:p.Val597Leu
NM_014444.3:c.1786G>C (TUBGCP4)	NP_055259.2:p.Val596Leu
NM_014444.4:c.1786G>C (TUBGCP4)	NP_055259.2:p.Val596Leu
XM_005254635.3:c.*3646C>G (TP53BP1)	XP_005254692.1:n.*3646C>G
XM_011521453.1:c.1738G>C (TUBGCP4)	XP_011519755.1:p.Val580Leu
XM_011521454.1:c.1735-676G>C (TUBGCP4)	XP_011519756.1:n.1735-676G>C
XM_011521455.1:c.1381G>C (TUBGCP4)	XP_011519757.1:p.Val461Leu
XM_011521984.1:c.*3646C>G (TP53BP1)	XP_011520286.1:n.*3646C>G
XM_011521985.1:c.*3646C>G (TP53BP1)	XP_011520287.1:n.*3646C>G
XR_243092.2:n.2148G>C (TUBGCP4)
NM_001141979.2:c.*3646C>G (TP53BP1)	NP_001135451.1:n.*3646C>G
NM_001141980.2:c.*3646C>G (TP53BP1)	NP_001135452.1:n.*3646C>G
NM_001355001.1:c.*3646C>G (TP53BP1)	NP_001341930.1:n.*3646C>G
NM_005657.3:c.*3646C>G (TP53BP1)	NP_005648.1:n.*3646C>G
XM_011521454.3:c.1735-676G>C (TUBGCP4)	XP_011519756.1:n.1735-676G>C
XM_011521455.2:c.1381G>C (TUBGCP4)	XP_011519757.1:p.Val461Leu
XM_011521985.2:c.*3646C>G (TP53BP1)	XP_011520287.1:n.*3646C>G
XM_017022078.2:c.1732-676G>C (TUBGCP4)	XP_016877567.1:n.1732-676G>C
XR_001751226.2:n.2077-676G>C (TUBGCP4)
XR_001751382.2:n.9861C>G (TP53BP1)
XR_243092.4:n.2131G>C (TUBGCP4)
NM_001141979.3:c.*3646C>G (TP53BP1)	NP_001135451.1:n.*3646C>G
NM_001141980.3:c.*3646C>G (TP53BP1) MANE Select	NP_001135452.1:n.*3646C>G
NM_001286414.3:c.1789G>C (TUBGCP4)	NP_001273343.1:p.Val597Leu
NM_001355001.2:c.*3646C>G (TP53BP1)	NP_001341930.1:n.*3646C>G
NM_005657.4:c.*3646C>G (TP53BP1)	NP_005648.1:n.*3646C>G
NM_014444.5:c.1786G>C (TUBGCP4) MANE Select	NP_055259.2:p.Val596Leu