Revel Score:
ENST00000419333
0.853
ENST00000292823
0.853
ENST00000416798
0.853
ENST00000431016 (MANE Select)
0.853
ENST00000411591
0.853
ENST00000433733
0.853
ENST00000430755
0.853
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196242083A>T , CM000665.2:g.196242083A>T | GRCh38 |
| NC_000003.11:g.195968954A>T , CM000665.1:g.195968954A>T | GRCh37 |
| NC_000003.10:g.197453351A>T | NCBI36 |
| NG_042817.1:g.50670T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431016.6:c.573T>A (PCYT1A) MANE Select | ENSP00000394617.1:p.Phe191Leu | |
| ENST00000292823.6:c.573T>A (PCYT1A) | ENSP00000292823.2:p.Phe191Leu | |
| ENST00000411591.5:c.573T>A (PCYT1A) | ENSP00000400430.1:p.Phe191Leu | |
| ENST00000415111.1:c.58-411A>T (SLC51A) | ENSP00000409560.1:n.58-411A>T | |
| ENST00000419333.5:c.573T>A (PCYT1A) | ENSP00000390968.1:p.Phe191Leu | |
| ENST00000430755.5:c.375T>A (PCYT1A) | ENSP00000402283.1:p.Phe125Leu | |
| ENST00000431016.5:c.573T>A (PCYT1A) | ENSP00000394617.1:p.Phe191Leu | |
| ENST00000433733.5:c.192T>A (PCYT1A) | ENSP00000390458.1:p.Phe64Leu | |
| ENST00000441879.5:c.486+5284T>A (PCYT1A) | ENSP00000392397.1:n.486+5284T>A | |
| ENST00000473978.5:n.1414T>A (PCYT1A) | ||
| NM_001312673.1:c.573T>A (PCYT1A) | NP_001299602.1:p.Phe191Leu | |
| NM_005017.2:c.573T>A (PCYT1A) | NP_005008.2:p.Phe191Leu | |
| NM_005017.3:c.573T>A (PCYT1A) | NP_005008.2:p.Phe191Leu | |
| NM_001312673.2:c.573T>A (PCYT1A) MANE Select | NP_001299602.1:p.Phe191Leu | |
| NM_005017.4:c.573T>A (PCYT1A) | NP_005008.2:p.Phe191Leu |