Revel Score:
ENST00000344775
0.942
ENST00000294954 (MANE Select)
0.942
ENST00000405626
0.942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48688769C>G , CM000664.2:g.48688769C>G | GRCh38 |
| NC_000002.11:g.48915908C>G , CM000664.1:g.48915908C>G | GRCh37 |
| NC_000002.10:g.48769412C>G | NCBI36 |
| NG_008193.1:g.71973G>C | |
| NG_033050.1:g.163845C>G | |
| NG_008193.2:g.71973G>C | |
| NG_033050.2:g.163845C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.1028G>C (LHCGR) MANE Select | ENSP00000294954.6:p.Cys343Ser | |
| ENST00000294954.11:c.1028G>C (LHCGR) | ENSP00000294954.6:p.Cys343Ser | |
| ENST00000401907.5:c.948-630G>C (LHCGR) | ENSP00000385406.1:n.948-630G>C | |
| ENST00000402114.6:c.3441+17089C>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+17089C>G | |
| ENST00000403273.5:c.948-186G>C (LHCGR) | ENSP00000385847.1:n.948-186G>C | |
| ENST00000405626.5:c.947G>C (LHCGR) | ENSP00000386033.1:p.Cys316Ser | |
| ENST00000508440.1:c.276+17089C>G (GTF2A1L) | ENSP00000421474.1:n.276+17089C>G | |
| ENST00000602369.3:c.*220+5455G>C | ENSP00000473498.1:n.*220+5455G>C | |
| NM_000233.3:c.1028G>C (LHCGR) | NP_000224.2:p.Cys343Ser | |
| NM_001198593.1:c.3441+17089C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+17089C>G | |
| XM_005264309.2:c.71G>C (LHCGR) | XP_005264366.1:p.Cys24Ser | |
| XM_006712015.2:c.98G>C (LHCGR) | XP_006712078.1:p.Cys33Ser | |
| XM_011532828.1:c.953G>C (LHCGR) | XP_011531130.1:p.Cys318Ser | |
| XM_011532829.1:c.767G>C (LHCGR) | XP_011531131.1:p.Cys256Ser | |
| XM_011532830.1:c.686G>C (LHCGR) | XP_011531132.1:p.Cys229Ser | |
| XM_011532831.1:c.392G>C (LHCGR) | XP_011531133.1:p.Cys131Ser | |
| XM_011532832.1:c.98G>C (LHCGR) | XP_011531134.1:p.Cys33Ser | |
| XM_011532833.1:c.98G>C (LHCGR) | XP_011531135.1:p.Cys33Ser | |
| XM_011532834.1:c.71G>C (LHCGR) | XP_011531136.1:p.Cys24Ser | |
| XM_005264309.3:c.71G>C (LHCGR) | XP_005264366.1:p.Cys24Ser | |
| XM_006712015.3:c.98G>C (LHCGR) | XP_006712078.1:p.Cys33Ser | |
| XM_011532834.2:c.71G>C (LHCGR) | XP_011531136.1:p.Cys24Ser | |
| XM_017004089.1:c.773G>C (LHCGR) | XP_016859578.1:p.Cys258Ser | |
| XM_017004090.1:c.392G>C (LHCGR) | XP_016859579.1:p.Cys131Ser | |
| NM_000233.4:c.1028G>C (LHCGR) MANE Select | NP_000224.2:p.Cys343Ser | |
| NM_001198593.2:c.3441+17089C>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+17089C>G |