Revel Score:
ENST00000537418
0.397
ENST00000338193 (MANE Select)
0.397
ENST00000550770
0.397
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56752285T>A , CM000674.2:g.56752285T>A | GRCh38 |
| NC_000012.11:g.57146069T>A , CM000674.1:g.57146069T>A | GRCh37 |
| NC_000012.10:g.55432336T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706566.1:c.14A>T (PRIM1) | ENSP00000516451.1:p.Asp5Val | |
| ENST00000706567.1:c.14A>T (PRIM1) | ENSP00000516452.1:p.Asp5Val | |
| ENST00000338193.11:c.14A>T (PRIM1) MANE Select | ENSP00000350491.5:p.Asp5Val | |
| ENST00000672280.1:c.14A>T (PRIM1) | ENSP00000500157.1:p.Asp5Val | |
| ENST00000338193.10:c.14A>T (PRIM1) | ENSP00000350491.5:p.Asp5Val | |
| ENST00000548173.5:n.55A>T (PRIM1) | ||
| ENST00000550224.5:n.29A>T (PRIM1) | ||
| ENST00000550770.1:c.14A>T (PRIM1) | ENSP00000450185.1:p.Asp5Val | |
| ENST00000552590.6:c.14A>T (PRIM1) | ENSP00000448178.1:p.Asp5Val | |
| ENST00000555159.5:c.-53T>A (HSD17B6) | ENSP00000450698.1:n.-53T>A | |
| ENST00000555805.5:c.-250T>A (HSD17B6) | ENSP00000451753.1:n.-250T>A | |
| NM_000946.2:c.14A>T (PRIM1) | NP_000937.1:p.Asp5Val | |
| NM_000946.3:c.14A>T (PRIM1) MANE Select | NP_000937.1:p.Asp5Val |