Revel Score:
ENST00000453258
0.099
ENST00000371206
0.099
ENST00000371207
0.099
ENST00000371205 (MANE Select)
0.099
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00119668 (NFE)
Genomes Max Group AF
0.00084773 (NFE)
Exomes Max Group AF
0.00120693 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95823245G>A , CM000672.2:g.95823245G>A | GRCh38 |
| NC_000010.10:g.97583002G>A , CM000672.1:g.97583002G>A | GRCh37 |
| NC_000010.9:g.97572992G>A | NCBI36 |
| NG_042803.1:g.116467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371205.5:c.25G>A (ENTPD1) MANE Select | ENSP00000360248.4:p.Val9Met | |
| ENST00000639992.1:c.25G>A (ENTPD1) | ENSP00000492183.1:p.Val9Met | |
| ENST00000371205.4:c.25G>A (ENTPD1) | ENSP00000360248.4:p.Val9Met | |
| ENST00000371206.6:n.10G>A (ENTPD1) | ||
| ENST00000371207.8:c.61G>A (ENTPD1) | ENSP00000360250.3:p.Val21Met | |
| ENST00000453258.6:c.46G>A (ENTPD1) | ENSP00000390955.2:p.Val16Met | |
| ENST00000483213.6:c.-180-16446G>A (ENTPD1) | ENSP00000489333.1:n.-180-16446G>A | |
| ENST00000490659.5:n.8G>A (ENTPD1) | ||
| ENST00000543964.6:c.-180-16446G>A (ENTPD1) | ENSP00000442968.1:n.-180-16446G>A | |
| ENST00000635076.1:c.25G>A (ENTPD1) | ENSP00000489250.1:p.Val9Met | |
| ENST00000635677.1:n.29G>A (ENTPD1) | ||
| NM_001098175.1:c.46G>A (ENTPD1) | NP_001091645.1:p.Val16Met | |
| NM_001164178.1:c.61G>A (ENTPD1) | NP_001157650.1:p.Val21Met | |
| NM_001164179.1:c.25G>A (ENTPD1) | NP_001157651.1:p.Val9Met | |
| NM_001164181.1:c.-180-16446G>A (ENTPD1) | NP_001157653.1:n.-180-16446G>A | |
| NM_001164182.1:c.-239G>A (ENTPD1) | NP_001157654.1:n.-239G>A | |
| NM_001164183.1:c.-121G>A (ENTPD1) | NP_001157655.1:n.-121G>A | |
| NM_001312654.1:c.-181+12439G>A (ENTPD1) | NP_001299583.1:n.-181+12439G>A | |
| NM_001776.5:c.25G>A (ENTPD1) | NP_001767.3:p.Val9Met | |
| NR_038444.1:n.533+24147C>T (ENTPD1-AS1) | ||
| XM_011540370.1:c.-180-16446G>A (ENTPD1) | XP_011538672.1:n.-180-16446G>A | |
| XM_011540371.1:c.46G>A (ENTPD1) | XP_011538673.1:p.Val16Met | |
| XM_011540372.1:c.-180-16446G>A (ENTPD1) | XP_011538674.1:n.-180-16446G>A | |
| XM_011540373.1:c.-180-16446G>A (ENTPD1) | XP_011538675.1:n.-180-16446G>A | |
| XM_011540374.1:c.-180-16446G>A (ENTPD1) | XP_011538676.1:n.-180-16446G>A | |
| XM_011540375.1:c.-180-16446G>A (ENTPD1) | XP_011538677.1:n.-180-16446G>A | |
| XM_011540376.1:c.-180-16446G>A (ENTPD1) | XP_011538678.1:n.-180-16446G>A | |
| XM_011540377.1:c.-300G>A (ENTPD1) | XP_011538679.1:n.-300G>A | |
| NM_001320916.1:c.61G>A (ENTPD1) | NP_001307845.1:p.Val21Met | |
| XM_011540370.2:c.202-16446G>A (ENTPD1) | XP_011538672.2:n.202-16446G>A | |
| XM_011540371.2:c.46G>A (ENTPD1) | XP_011538673.1:p.Val16Met | |
| XM_011540372.2:c.202-16446G>A (ENTPD1) | XP_011538674.2:n.202-16446G>A | |
| XM_011540373.2:c.202-16446G>A (ENTPD1) | XP_011538675.2:n.202-16446G>A | |
| XM_011540374.3:c.202-16446G>A (ENTPD1) | XP_011538676.2:n.202-16446G>A | |
| XM_011540376.2:c.202-16446G>A (ENTPD1) | XP_011538678.2:n.202-16446G>A | |
| XM_011540377.2:c.-300G>A (ENTPD1) | XP_011538679.1:n.-300G>A | |
| XM_017016958.2:c.25G>A (ENTPD1) | XP_016872447.1:p.Val9Met | |
| XM_017016959.1:c.-119-16446G>A (ENTPD1) | XP_016872448.1:n.-119-16446G>A | |
| XM_017016960.1:c.-180-16446G>A (ENTPD1) | XP_016872449.1:n.-180-16446G>A | |
| XM_017016961.1:c.-239G>A (ENTPD1) | XP_016872450.1:n.-239G>A | |
| XM_017016962.1:c.202-16446G>A (ENTPD1) | XP_016872451.1:n.202-16446G>A | |
| XM_017016963.1:c.61G>A (ENTPD1) | XP_016872452.1:p.Val21Met | |
| XM_017016964.2:c.25G>A (ENTPD1) | XP_016872453.1:p.Val9Met | |
| NM_001776.6:c.25G>A (ENTPD1) MANE Select | NP_001767.3:p.Val9Met | |
| NM_001098175.2:c.46G>A (ENTPD1) | NP_001091645.1:p.Val16Met | |
| NM_001164179.2:c.25G>A (ENTPD1) | NP_001157651.1:p.Val9Met | |
| NM_001164182.2:c.-239G>A (ENTPD1) | NP_001157654.1:n.-239G>A | |
| NM_001164183.2:c.-121G>A (ENTPD1) | NP_001157655.1:n.-121G>A |