Canonical Allele Identifier: CA199567

Gene: TP53BP1 TUBGCP4

Linked Data

• ClinVar Variation Id: 190123
• ClinVar RCV Id: RCV000170357 ; RCV000255727 ; RCV000825552 ; RCV003917581
• dbSNP Id: rs200092283
• ExAC: 15:43695895 G / T
• gnomAD v2: 15-43695895-G-T
• gnomAD v3: 15-43403697-G-T
• gnomAD v4: 15-43403697-G-T
• MyVariant Identifiers: chr15:g.43695895G>T (hg19) ; chr15:g.43403697G>T (hg38)
• PubMed: PMID:25817018

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43403697G>T , CM000677.2:g.43403697G>T	GRCh38
NC_000015.9:g.43695895G>T , CM000677.1:g.43695895G>T	GRCh37
NC_000015.8:g.41483187G>T	NCBI36
NG_042168.1:g.37639G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382044.9:c.*3686C>A (TP53BP1) MANE Select	ENSP00000371475.5:n.*3686C>A
ENST00000564079.6:c.1746G>T (TUBGCP4) MANE Select	ENSP00000456648.2:p.Leu582=
ENST00000260383.11:c.1749G>T (TUBGCP4)	ENSP00000260383.7:p.Leu583=
ENST00000382044.8:c.*3686C>A (TP53BP1)	ENSP00000371475.4:n.*3686C>A
ENST00000561691.5:c.1568G>T (TUBGCP4)
ENST00000563147.5:c.364-716G>T (TUBGCP4)	ENSP00000454915.1:n.364-716G>T
ENST00000563963.1:n.4015G>T (TUBGCP4)
ENST00000564079.5:c.1746G>T (TUBGCP4)	ENSP00000456648.1:p.Leu582=
ENST00000565548.1:c.60G>T (TUBGCP4)	ENSP00000456550.1:p.Leu20=
ENST00000566251.1:c.48G>T (TUBGCP4)	ENSP00000455555.1:p.Leu16=
NM_001286414.1:c.1749G>T (TUBGCP4)	NP_001273343.1:p.Leu583=
NM_001286414.2:c.1749G>T (TUBGCP4)	NP_001273343.1:p.Leu583=
NM_014444.3:c.1746G>T (TUBGCP4)	NP_055259.2:p.Leu582=
NM_014444.4:c.1746G>T (TUBGCP4)	NP_055259.2:p.Leu582=
XM_005254635.3:c.*3686C>A (TP53BP1)	XP_005254692.1:n.*3686C>A
XM_011521453.1:c.1698G>T (TUBGCP4)	XP_011519755.1:p.Leu566=
XM_011521454.1:c.1735-716G>T (TUBGCP4)	XP_011519756.1:n.1735-716G>T
XM_011521455.1:c.1341G>T (TUBGCP4)	XP_011519757.1:p.Leu447=
XM_011521984.1:c.*3686C>A (TP53BP1)	XP_011520286.1:n.*3686C>A
XM_011521985.1:c.*3686C>A (TP53BP1)	XP_011520287.1:n.*3686C>A
XR_243092.2:n.2108G>T (TUBGCP4)
NM_001141979.2:c.*3686C>A (TP53BP1)	NP_001135451.1:n.*3686C>A
NM_001141980.2:c.*3686C>A (TP53BP1)	NP_001135452.1:n.*3686C>A
NM_001355001.1:c.*3686C>A (TP53BP1)	NP_001341930.1:n.*3686C>A
NM_005657.3:c.*3686C>A (TP53BP1)	NP_005648.1:n.*3686C>A
XM_011521454.3:c.1735-716G>T (TUBGCP4)	XP_011519756.1:n.1735-716G>T
XM_011521455.2:c.1341G>T (TUBGCP4)	XP_011519757.1:p.Leu447=
XM_011521985.2:c.*3686C>A (TP53BP1)	XP_011520287.1:n.*3686C>A
XM_017022078.2:c.1732-716G>T (TUBGCP4)	XP_016877567.1:n.1732-716G>T
XR_001751226.2:n.2077-716G>T (TUBGCP4)
XR_001751382.2:n.9901C>A (TP53BP1)
XR_243092.4:n.2091G>T (TUBGCP4)
NM_001141979.3:c.*3686C>A (TP53BP1)	NP_001135451.1:n.*3686C>A
NM_001141980.3:c.*3686C>A (TP53BP1) MANE Select	NP_001135452.1:n.*3686C>A
NM_001286414.3:c.1749G>T (TUBGCP4)	NP_001273343.1:p.Leu583=
NM_001355001.2:c.*3686C>A (TP53BP1)	NP_001341930.1:n.*3686C>A
NM_005657.4:c.*3686C>A (TP53BP1)	NP_005648.1:n.*3686C>A
NM_014444.5:c.1746G>T (TUBGCP4) MANE Select	NP_055259.2:p.Leu582=