Linked Data
ClinVar Variation Id:
1651871
ClinVar RCV Id:
RCV002154229
dbSNP Id:
rs753184705
ExAC:
15:43696770 A / G
gnomAD v2:
15-43696770-A-G
gnomAD v3:
15-43404572-A-G
gnomAD v4:
15-43404572-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43404572A>G , CM000677.2:g.43404572A>G | GRCh38 |
| NC_000015.9:g.43696770A>G , CM000677.1:g.43696770A>G | GRCh37 |
| NC_000015.8:g.41484062A>G | NCBI36 |
| NG_042168.1:g.38514A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382044.9:c.*2811T>C (TP53BP1) MANE Select | ENSP00000371475.5:n.*2811T>C | |
| ENST00000564079.6:c.1988+20A>G (TUBGCP4) MANE Select | ENSP00000456648.2:n.1988+20A>G | |
| ENST00000260383.11:c.1991+20A>G (TUBGCP4) | ENSP00000260383.7:n.1991+20A>G | |
| ENST00000382044.8:c.*2811T>C (TP53BP1) | ENSP00000371475.4:n.*2811T>C | |
| ENST00000561691.5:c.1810+20A>G (TUBGCP4) | ||
| ENST00000563147.5:c.503+20A>G (TUBGCP4) | ENSP00000454915.1:n.503+20A>G | |
| ENST00000563963.1:n.4257+20A>G (TUBGCP4) | ||
| ENST00000564079.5:c.1988+20A>G (TUBGCP4) | ENSP00000456648.1:n.1988+20A>G | |
| ENST00000565548.1:c.302+20A>G (TUBGCP4) | ENSP00000456550.1:n.302+20A>G | |
| ENST00000566251.1:c.333+20A>G (TUBGCP4) | ENSP00000455555.1:n.333+20A>G | |
| NM_001286414.1:c.1991+20A>G (TUBGCP4) | NP_001273343.1:n.1991+20A>G | |
| NM_001286414.2:c.1991+20A>G (TUBGCP4) | NP_001273343.1:n.1991+20A>G | |
| NM_014444.3:c.1988+20A>G (TUBGCP4) | NP_055259.2:n.1988+20A>G | |
| NM_014444.4:c.1988+20A>G (TUBGCP4) | NP_055259.2:n.1988+20A>G | |
| XM_005254635.3:c.*2811T>C (TP53BP1) | XP_005254692.1:n.*2811T>C | |
| XM_011521453.1:c.1940+20A>G (TUBGCP4) | XP_011519755.1:n.1940+20A>G | |
| XM_011521454.1:c.1874+20A>G (TUBGCP4) | XP_011519756.1:n.1874+20A>G | |
| XM_011521455.1:c.1583+20A>G (TUBGCP4) | XP_011519757.1:n.1583+20A>G | |
| XM_011521984.1:c.*2811T>C (TP53BP1) | XP_011520286.1:n.*2811T>C | |
| XM_011521985.1:c.*2811T>C (TP53BP1) | XP_011520287.1:n.*2811T>C | |
| XR_243092.2:n.2350+20A>G (TUBGCP4) | ||
| NM_001141979.2:c.*2811T>C (TP53BP1) | NP_001135451.1:n.*2811T>C | |
| NM_001141980.2:c.*2811T>C (TP53BP1) | NP_001135452.1:n.*2811T>C | |
| NM_001355001.1:c.*2811T>C (TP53BP1) | NP_001341930.1:n.*2811T>C | |
| NM_005657.3:c.*2811T>C (TP53BP1) | NP_005648.1:n.*2811T>C | |
| XM_011521454.3:c.1874+20A>G (TUBGCP4) | XP_011519756.1:n.1874+20A>G | |
| XM_011521455.2:c.1583+20A>G (TUBGCP4) | XP_011519757.1:n.1583+20A>G | |
| XM_011521985.2:c.*2811T>C (TP53BP1) | XP_011520287.1:n.*2811T>C | |
| XM_017022078.2:c.1871+20A>G (TUBGCP4) | XP_016877567.1:n.1871+20A>G | |
| XR_001751226.2:n.2216+20A>G (TUBGCP4) | ||
| XR_001751382.2:n.9026T>C (TP53BP1) | ||
| XR_243092.4:n.2333+20A>G (TUBGCP4) | ||
| NM_001141979.3:c.*2811T>C (TP53BP1) | NP_001135451.1:n.*2811T>C | |
| NM_001141980.3:c.*2811T>C (TP53BP1) MANE Select | NP_001135452.1:n.*2811T>C | |
| NM_001286414.3:c.1991+20A>G (TUBGCP4) | NP_001273343.1:n.1991+20A>G | |
| NM_001355001.2:c.*2811T>C (TP53BP1) | NP_001341930.1:n.*2811T>C | |
| NM_005657.4:c.*2811T>C (TP53BP1) | NP_005648.1:n.*2811T>C | |
| NM_014444.5:c.1988+20A>G (TUBGCP4) MANE Select | NP_055259.2:n.1988+20A>G |