Revel Score:
ENST00000344775
0.829
ENST00000294954 (MANE Select)
0.829
ENST00000405626
0.829
ENST00000403273
0.829
ENST00000401907
0.829
ENST00000428232
0.829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48723689A>G , CM000664.2:g.48723689A>G | GRCh38 |
| NC_000002.11:g.48950828A>G , CM000664.1:g.48950828A>G | GRCh37 |
| NC_000002.10:g.48804332A>G | NCBI36 |
| NG_008193.1:g.37053T>C | |
| NG_033050.1:g.198765A>G | |
| NG_008193.2:g.37053T>C | |
| NG_033050.2:g.198765A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294954.12:c.391T>C (LHCGR) MANE Select | ENSP00000294954.6:p.Cys131Arg | |
| ENST00000294954.11:c.391T>C (LHCGR) | ENSP00000294954.6:p.Cys131Arg | |
| ENST00000401907.5:c.391T>C (LHCGR) | ENSP00000385406.1:p.Cys131Arg | |
| ENST00000402114.6:c.3441+52009A>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3441+52009A>G | |
| ENST00000403273.5:c.391T>C (LHCGR) | ENSP00000385847.1:p.Cys131Arg | |
| ENST00000405626.5:c.391T>C (LHCGR) | ENSP00000386033.1:p.Cys131Arg | |
| ENST00000428232.2:c.289T>C (LHCGR) | ENSP00000403748.1:p.Cys97Arg | |
| ENST00000508440.1:c.277-9204A>G (GTF2A1L) | ENSP00000421474.1:n.277-9204A>G | |
| ENST00000602369.3:c.316T>C | ENSP00000473498.1:p.Cys106Arg | |
| NM_000233.3:c.391T>C (LHCGR) | NP_000224.2:p.Cys131Arg | |
| NM_001198593.1:c.3441+52009A>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+52009A>G | |
| XM_011532828.1:c.316T>C (LHCGR) | XP_011531130.1:p.Cys106Arg | |
| XM_011532829.1:c.316T>C (LHCGR) | XP_011531131.1:p.Cys106Arg | |
| XM_011532830.1:c.316T>C (LHCGR) | XP_011531132.1:p.Cys106Arg | |
| XM_017004089.1:c.322T>C (LHCGR) | XP_016859578.1:p.Cys108Arg | |
| NM_000233.4:c.391T>C (LHCGR) MANE Select | NP_000224.2:p.Cys131Arg | |
| NM_001198593.2:c.3441+52009A>G (STON1-GTF2A1L) | NP_001185522.1:n.3441+52009A>G |