Linked Data
ClinVar Variation Id:
498850
dbSNP Id:
rs146889178
ExAC:
10:97626086 C / G
gnomAD v2:
10-97626086-C-G
gnomAD v3:
10-95866329-C-G
gnomAD v4:
10-95866329-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95866329C>G , CM000672.2:g.95866329C>G | GRCh38 |
| NC_000010.10:g.97626086C>G , CM000672.1:g.97626086C>G | GRCh37 |
| NC_000010.9:g.97616076C>G | NCBI36 |
| NG_042803.1:g.159551C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371205.5:c.1479C>G (ENTPD1) MANE Select | ENSP00000360248.4:p.Ile493Met | |
| ENST00000639992.1:c.*884C>G (ENTPD1) | ENSP00000492183.1:n.*884C>G | |
| ENST00000371205.4:c.1479C>G (ENTPD1) | ENSP00000360248.4:p.Ile493Met | |
| ENST00000371207.8:c.1515C>G (ENTPD1) | ENSP00000360250.3:p.Ile505Met | |
| ENST00000453258.6:c.1500C>G (ENTPD1) | ENSP00000390955.2:p.Ile500Met | |
| ENST00000491114.1:c.173+1468C>G | ||
| ENST00000539125.6:c.1065C>G | ENSP00000440027.1:p.Ile355Met | |
| ENST00000543964.6:c.1155C>G (ENTPD1) | ENSP00000442968.1:p.Ile385Met | |
| ENST00000635076.1:c.*1054C>G (ENTPD1) | ENSP00000489250.1:n.*1054C>G | |
| NM_001098175.1:c.1500C>G (ENTPD1) | NP_001091645.1:p.Ile500Met | |
| NM_001164178.1:c.1515C>G (ENTPD1) | NP_001157650.1:p.Ile505Met | |
| NM_001164179.1:c.1356C>G (ENTPD1) | NP_001157651.1:p.Ile452Met | |
| NM_001164181.1:c.1155C>G (ENTPD1) | NP_001157653.1:p.Ile385Met | |
| NM_001164182.1:c.1065C>G (ENTPD1) | NP_001157654.1:p.Ile355Met | |
| NM_001164183.1:c.1065C>G (ENTPD1) | NP_001157655.1:p.Ile355Met | |
| NM_001312654.1:c.1155C>G (ENTPD1) | NP_001299583.1:p.Ile385Met | |
| NM_001776.5:c.1479C>G (ENTPD1) | NP_001767.3:p.Ile493Met | |
| NR_038444.1:n.439+10189G>C (ENTPD1-AS1) | ||
| XM_011540370.1:c.1155C>G (ENTPD1) | XP_011538672.1:p.Ile385Met | |
| XM_011540371.1:c.1500C>G (ENTPD1) | XP_011538673.1:p.Ile500Met | |
| XM_011540372.1:c.1002+1468C>G (ENTPD1) | XP_011538674.1:n.1002+1468C>G | |
| XM_011540373.1:c.*110C>G (ENTPD1) | XP_011538675.1:n.*110C>G | |
| XM_011540375.1:c.1002+1468C>G (ENTPD1) | XP_011538677.1:n.1002+1468C>G | |
| XM_011540377.1:c.1155C>G (ENTPD1) | XP_011538679.1:p.Ile385Met | |
| NM_001320916.1:c.1362+1468C>G (ENTPD1) | NP_001307845.1:n.1362+1468C>G | |
| XM_011540370.2:c.1536C>G (ENTPD1) | XP_011538672.2:p.Ile512Met | |
| XM_011540371.2:c.1500C>G (ENTPD1) | XP_011538673.1:p.Ile500Met | |
| XM_011540372.2:c.1383+1468C>G (ENTPD1) | XP_011538674.2:n.1383+1468C>G | |
| XM_011540373.2:c.*110C>G (ENTPD1) | XP_011538675.2:n.*110C>G | |
| XM_011540377.2:c.1155C>G (ENTPD1) | XP_011538679.1:p.Ile385Met | |
| XM_017016958.2:c.1326+1468C>G (ENTPD1) | XP_016872447.1:n.1326+1468C>G | |
| XM_017016959.1:c.1065C>G (ENTPD1) | XP_016872448.1:p.Ile355Met | |
| XM_017016960.1:c.1002+1468C>G (ENTPD1) | XP_016872449.1:n.1002+1468C>G | |
| XM_017016961.1:c.912+1468C>G (ENTPD1) | XP_016872450.1:n.912+1468C>G | |
| NM_001776.6:c.1479C>G (ENTPD1) MANE Select | NP_001767.3:p.Ile493Met | |
| NM_001098175.2:c.1500C>G (ENTPD1) | NP_001091645.1:p.Ile500Met | |
| NM_001164179.2:c.1356C>G (ENTPD1) | NP_001157651.1:p.Ile452Met | |
| NM_001164182.2:c.1065C>G (ENTPD1) | NP_001157654.1:p.Ile355Met | |
| NM_001164183.2:c.1065C>G (ENTPD1) | NP_001157655.1:p.Ile355Met |