Linked Data
ClinVar Variation Id:
1525981
ClinVar RCV Id:
RCV002051595
dbSNP Id:
rs2142944572
gnomAD v4:
15-43409743-T-C
MutSpliceDB:
CA392147617
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43409743T>C , CM000677.2:g.43409743T>C | GRCh38 |
| NC_000015.9:g.43701941T>C , CM000677.1:g.43701941T>C | GRCh37 |
| NC_000015.8:g.41489233T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382044.9:c.5306-2A>G (TP53BP1) MANE Select | ENSP00000371475.5:n.5306-2A>G | |
| ENST00000564079.6:c.*4529T>C (TUBGCP4) MANE Select | ENSP00000456648.2:n.*4529T>C | |
| ENST00000263801.7:c.5291-2A>G (TP53BP1) | ENSP00000263801.3:n.5291-2A>G | |
| ENST00000382039.7:c.5156-2A>G (TP53BP1) | ENSP00000371470.3:n.5156-2A>G | |
| ENST00000382044.8:c.5306-2A>G (TP53BP1) | ENSP00000371475.4:n.5306-2A>G | |
| ENST00000411772.5:c.3179-2A>G (TP53BP1) | ||
| ENST00000434595.1:c.265-2A>G (TP53BP1) | ||
| ENST00000450115.6:c.5300-2A>G (TP53BP1) | ENSP00000393497.2:n.5300-2A>G | |
| ENST00000476454.5:n.1425-2A>G (TP53BP1) | ||
| ENST00000564079.5:c.*4529T>C (TUBGCP4) | ENSP00000456648.1:n.*4529T>C | |
| NM_001141979.1:c.5300-2A>G (TP53BP1) | NP_001135451.1:n.5300-2A>G | |
| NM_001141980.1:c.5306-2A>G (TP53BP1) | NP_001135452.1:n.5306-2A>G | |
| NM_005657.2:c.5291-2A>G (TP53BP1) | NP_005648.1:n.5291-2A>G | |
| XM_005254635.3:c.2426-2A>G (TP53BP1) | XP_005254692.1:n.2426-2A>G | |
| XM_011521984.1:c.5291-2A>G (TP53BP1) | XP_011520286.1:n.5291-2A>G | |
| XM_011521985.1:c.5156-2A>G (TP53BP1) | XP_011520287.1:n.5156-2A>G | |
| XR_931898.1:n.5586-2A>G (TP53BP1) | ||
| NM_001141979.2:c.5300-2A>G (TP53BP1) | NP_001135451.1:n.5300-2A>G | |
| NM_001141980.2:c.5306-2A>G (TP53BP1) | NP_001135452.1:n.5306-2A>G | |
| NM_001355001.1:c.2426-2A>G (TP53BP1) | NP_001341930.1:n.2426-2A>G | |
| NM_005657.3:c.5291-2A>G (TP53BP1) | NP_005648.1:n.5291-2A>G | |
| XM_011521455.2:c.*4529T>C (TUBGCP4) | XP_011519757.1:n.*4529T>C | |
| XM_011521985.2:c.5156-2A>G (TP53BP1) | XP_011520287.1:n.5156-2A>G | |
| XM_017022078.2:c.*4529T>C (TUBGCP4) | XP_016877567.1:n.*4529T>C | |
| XR_001751382.2:n.5587-2A>G (TP53BP1) | ||
| NM_001141979.3:c.5300-2A>G (TP53BP1) | NP_001135451.1:n.5300-2A>G | |
| NM_001141980.3:c.5306-2A>G (TP53BP1) MANE Select | NP_001135452.1:n.5306-2A>G | |
| NM_001286414.3:c.*4529T>C (TUBGCP4) | NP_001273343.1:n.*4529T>C | |
| NM_001355001.2:c.2426-2A>G (TP53BP1) | NP_001341930.1:n.2426-2A>G | |
| NM_005657.4:c.5291-2A>G (TP53BP1) | NP_005648.1:n.5291-2A>G | |
| NM_014444.5:c.*4529T>C (TUBGCP4) MANE Select | NP_055259.2:n.*4529T>C |