Linked Data
ClinVar Variation Id:
190123
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
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= |