Revel Score:
ENST00000360581 (MANE Select)
0.257
ENST00000381542
0.257
ENST00000359791
0.257
ENST00000531252
0.257
ENST00000381539
0.257
ENST00000334481
0.257
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34827538T>C , CM000669.2:g.34827538T>C | GRCh38 |
| NC_000007.13:g.34867150T>C , CM000669.1:g.34867150T>C | GRCh37 |
| NC_000007.12:g.34833675T>C | NCBI36 |
| NG_012185.1:g.174254T>C | |
| NG_021366.1:g.11794A>G | |
| NG_012185.2:g.174254T>C | |
| NG_021366.2:g.11794A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360581.6:c.616T>C (NPSR1) MANE Select | ENSP00000353788.1:p.Tyr206His | |
| ENST00000359791.5:c.616T>C (NPSR1) | ENSP00000352839.1:p.Tyr206His | |
| ENST00000360581.5:c.616T>C (NPSR1) | ENSP00000353788.1:p.Tyr206His | |
| ENST00000381539.3:c.616T>C (NPSR1) | ENSP00000370950.3:p.Tyr206His | |
| ENST00000381542.5:c.418T>C (NPSR1) | ENSP00000370953.1:p.Tyr140His | |
| ENST00000381544.6:c.*35T>C (NPSR1) | ENSP00000370955.2:n.*35T>C | |
| ENST00000396095.6:c.*111T>C (NPSR1) | ENSP00000379402.2:n.*111T>C | |
| ENST00000531252.5:c.583T>C (NPSR1) | ENSP00000433258.1:p.Tyr195His | |
| NM_001300933.1:c.583T>C (NPSR1) | NP_001287862.1:p.Tyr195His | |
| NM_001300934.1:c.418T>C (NPSR1) | NP_001287863.1:p.Tyr140His | |
| NM_001300935.1:c.616T>C (NPSR1) | NP_001287864.1:p.Tyr206His | |
| NM_207172.1:c.616T>C (NPSR1) | NP_997055.1:p.Tyr206His | |
| NM_207173.1:c.616T>C (NPSR1) | NP_997056.1:p.Tyr206His | |
| NR_015356.2:n.171+6623A>G (NPSR1-AS1) | ||
| NM_001300933.2:c.583T>C (NPSR1) | NP_001287862.1:p.Tyr195His | |
| NM_207172.2:c.616T>C (NPSR1) MANE Select | NP_997055.1:p.Tyr206His | |
| NM_207173.2:c.616T>C (NPSR1) | NP_997056.1:p.Tyr206His | |
| NM_001300934.2:c.418T>C (NPSR1) | NP_001287863.1:p.Tyr140His | |
| NM_001300935.2:c.616T>C (NPSR1) | NP_001287864.1:p.Tyr206His |