Revel Score:
ENST00000419333
0.974
ENST00000292823
0.974
ENST00000416798
0.974
ENST00000431016 (MANE Select)
0.974
ENST00000411591
0.974
ENST00000433733
0.974
ENST00000430755
0.974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196242085A>G , CM000665.2:g.196242085A>G | GRCh38 |
| NC_000003.11:g.195968956A>G , CM000665.1:g.195968956A>G | GRCh37 |
| NC_000003.10:g.197453353A>G | NCBI36 |
| NG_042817.1:g.50668T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431016.6:c.571T>C (PCYT1A) MANE Select | ENSP00000394617.1:p.Phe191Leu | |
| ENST00000292823.6:c.571T>C (PCYT1A) | ENSP00000292823.2:p.Phe191Leu | |
| ENST00000411591.5:c.571T>C (PCYT1A) | ENSP00000400430.1:p.Phe191Leu | |
| ENST00000415111.1:c.58-409A>G (SLC51A) | ENSP00000409560.1:n.58-409A>G | |
| ENST00000419333.5:c.571T>C (PCYT1A) | ENSP00000390968.1:p.Phe191Leu | |
| ENST00000430755.5:c.373T>C (PCYT1A) | ENSP00000402283.1:p.Phe125Leu | |
| ENST00000431016.5:c.571T>C (PCYT1A) | ENSP00000394617.1:p.Phe191Leu | |
| ENST00000433733.5:c.190T>C (PCYT1A) | ENSP00000390458.1:p.Phe64Leu | |
| ENST00000441879.5:c.486+5282T>C (PCYT1A) | ENSP00000392397.1:n.486+5282T>C | |
| ENST00000473978.5:n.1412T>C (PCYT1A) | ||
| NM_001312673.1:c.571T>C (PCYT1A) | NP_001299602.1:p.Phe191Leu | |
| NM_005017.2:c.571T>C (PCYT1A) | NP_005008.2:p.Phe191Leu | |
| NM_005017.3:c.571T>C (PCYT1A) | NP_005008.2:p.Phe191Leu | |
| NM_001312673.2:c.571T>C (PCYT1A) MANE Select | NP_001299602.1:p.Phe191Leu | |
| NM_005017.4:c.571T>C (PCYT1A) | NP_005008.2:p.Phe191Leu |