Linked Data
ClinVar Variation Id:
101077
ClinVar RCV Id:
RCV000087330
dbSNP Id:
rs587777200
PubMed:
PMID:24482476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95844582G>T , CM000672.2:g.95844582G>T | GRCh38 |
| NC_000010.10:g.97604339G>T , CM000672.1:g.97604339G>T | GRCh37 |
| NC_000010.9:g.97594329G>T | NCBI36 |
| NG_042803.1:g.137804G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371205.5:c.520G>T (ENTPD1) MANE Select | ENSP00000360248.4:p.Glu174Ter | |
| ENST00000639992.1:c.369G>T (ENTPD1) | ENSP00000492183.1:p.Arg123Ser | |
| ENST00000371205.4:c.520G>T (ENTPD1) | ENSP00000360248.4:p.Glu174Ter | |
| ENST00000371206.6:n.505G>T (ENTPD1) | ||
| ENST00000371207.8:c.556G>T (ENTPD1) | ENSP00000360250.3:p.Glu186Ter | |
| ENST00000422161.2:n.8G>T (ENTPD1) | ||
| ENST00000453258.6:c.541G>T (ENTPD1) | ENSP00000390955.2:p.Glu181Ter | |
| ENST00000483213.6:c.117G>T (ENTPD1) | ENSP00000489333.1:p.Arg39Ser | |
| ENST00000490659.5:n.503G>T (ENTPD1) | ||
| ENST00000539125.6:c.106G>T | ENSP00000440027.1:p.Glu36Ter | |
| ENST00000543964.6:c.196G>T (ENTPD1) | ENSP00000442968.1:p.Glu66Ter | |
| ENST00000635076.1:c.*95G>T (ENTPD1) | ENSP00000489250.1:n.*95G>T | |
| ENST00000635677.1:n.373G>T (ENTPD1) | ||
| NM_001098175.1:c.541G>T (ENTPD1) | NP_001091645.1:p.Glu181Ter | |
| NM_001164178.1:c.556G>T (ENTPD1) | NP_001157650.1:p.Glu186Ter | |
| NM_001164179.1:c.520G>T (ENTPD1) | NP_001157651.1:p.Glu174Ter | |
| NM_001164181.1:c.196G>T (ENTPD1) | NP_001157653.1:p.Glu66Ter | |
| NM_001164182.1:c.106G>T (ENTPD1) | NP_001157654.1:p.Glu36Ter | |
| NM_001164183.1:c.106G>T (ENTPD1) | NP_001157655.1:p.Glu36Ter | |
| NM_001312654.1:c.196G>T (ENTPD1) | NP_001299583.1:p.Glu66Ter | |
| NM_001776.5:c.520G>T (ENTPD1) | NP_001767.3:p.Glu174Ter | |
| NR_038444.1:n.533+2810C>A (ENTPD1-AS1) | ||
| XM_011540370.1:c.196G>T (ENTPD1) | XP_011538672.1:p.Glu66Ter | |
| XM_011540371.1:c.541G>T (ENTPD1) | XP_011538673.1:p.Glu181Ter | |
| XM_011540372.1:c.196G>T (ENTPD1) | XP_011538674.1:p.Glu66Ter | |
| XM_011540373.1:c.196G>T (ENTPD1) | XP_011538675.1:p.Glu66Ter | |
| XM_011540374.1:c.196G>T (ENTPD1) | XP_011538676.1:p.Glu66Ter | |
| XM_011540375.1:c.196G>T (ENTPD1) | XP_011538677.1:p.Glu66Ter | |
| XM_011540376.1:c.196G>T (ENTPD1) | XP_011538678.1:p.Glu66Ter | |
| XM_011540377.1:c.196G>T (ENTPD1) | XP_011538679.1:p.Glu66Ter | |
| NM_001320916.1:c.556G>T (ENTPD1) | NP_001307845.1:p.Glu186Ter | |
| XM_011540370.2:c.577G>T (ENTPD1) | XP_011538672.2:p.Glu193Ter | |
| XM_011540371.2:c.541G>T (ENTPD1) | XP_011538673.1:p.Glu181Ter | |
| XM_011540372.2:c.577G>T (ENTPD1) | XP_011538674.2:p.Glu193Ter | |
| XM_011540373.2:c.577G>T (ENTPD1) | XP_011538675.2:p.Glu193Ter | |
| XM_011540374.3:c.577G>T (ENTPD1) | XP_011538676.2:p.Glu193Ter | |
| XM_011540376.2:c.577G>T (ENTPD1) | XP_011538678.2:p.Glu193Ter | |
| XM_011540377.2:c.196G>T (ENTPD1) | XP_011538679.1:p.Glu66Ter | |
| XM_017016958.2:c.520G>T (ENTPD1) | XP_016872447.1:p.Glu174Ter | |
| XM_017016959.1:c.106G>T (ENTPD1) | XP_016872448.1:p.Glu36Ter | |
| XM_017016960.1:c.196G>T (ENTPD1) | XP_016872449.1:p.Glu66Ter | |
| XM_017016961.1:c.106G>T (ENTPD1) | XP_016872450.1:p.Glu36Ter | |
| XM_017016962.1:c.577G>T (ENTPD1) | XP_016872451.1:p.Glu193Ter | |
| XM_017016963.1:c.556G>T (ENTPD1) | XP_016872452.1:p.Glu186Ter | |
| XM_017016964.2:c.520G>T (ENTPD1) | XP_016872453.1:p.Glu174Ter | |
| NM_001776.6:c.520G>T (ENTPD1) MANE Select | NP_001767.3:p.Glu174Ter | |
| NM_001098175.2:c.541G>T (ENTPD1) | NP_001091645.1:p.Glu181Ter | |
| NM_001164179.2:c.520G>T (ENTPD1) | NP_001157651.1:p.Glu174Ter | |
| NM_001164182.2:c.106G>T (ENTPD1) | NP_001157654.1:p.Glu36Ter | |
| NM_001164183.2:c.106G>T (ENTPD1) | NP_001157655.1:p.Glu36Ter |