Revel Score:
ENST00000400337
0.809
ENST00000400347
0.809
ENST00000355480
0.809
ENST00000359759
0.809
ENST00000539645
0.809
ENST00000342220
0.809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45512225G>T , CM000683.2:g.45512225G>T | GRCh38 |
| NC_000021.8:g.46932139G>T , CM000683.1:g.46932139G>T | GRCh37 |
| NC_000021.7:g.45756567G>T | NCBI36 |
| NG_011903.1:g.112034G>T | |
| NG_028278.2:g.55919C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.4387G>T (COL18A1) | ENSP00000347665.5:p.Gly1463Trp | |
| ENST00000651438.1:c.3847G>T (COL18A1) MANE Select | ENSP00000498485.1:p.Gly1283Trp | |
| ENST00000342220.9:c.1891G>T (COL18A1) | ENSP00000339118.5:p.Gly631Trp | |
| ENST00000355480.9:c.4387G>T (COL18A1) | ENSP00000347665.5:p.Gly1463Trp | |
| ENST00000359759.8:c.5092G>T (COL18A1) | ENSP00000352798.4:p.Gly1698Trp | |
| ENST00000400337.6:c.3847G>T (COL18A1) | ENSP00000383191.2:p.Gly1283Trp | |
| ENST00000417954.5:c.497+13592C>A (SLC19A1) | ||
| ENST00000423214.1:c.801G>T (COL18A1) | ||
| ENST00000473212.1:n.2173G>T (COL18A1) | ||
| ENST00000567670.5:c.1293+13592C>A (SLC19A1) | ENSP00000457278.1:n.1293+13592C>A | |
| NM_030582.3:c.4378G>T (COL18A1) | NP_085059.2:p.Gly1460Trp | |
| NM_130444.2:c.5083G>T (COL18A1) | NP_569711.2:p.Gly1695Trp | |
| NM_130445.3:c.3838G>T (COL18A1) | NP_569712.2:p.Gly1280Trp | |
| XM_011529707.1:c.1585-9256C>A (SLC19A1) | XP_011528009.1:n.1585-9256C>A | |
| XM_017028445.2:c.1585-9256C>A (SLC19A1) | XP_016883934.1:n.1585-9256C>A | |
| NM_030582.4:c.4378G>T (COL18A1) | NP_085059.2:p.Gly1460Trp | |
| NM_130444.3:c.5083G>T (COL18A1) | NP_569711.2:p.Gly1695Trp | |
| NM_130445.4:c.3838G>T (COL18A1) | NP_569712.2:p.Gly1280Trp | |
| NM_001379500.1:c.3847G>T (COL18A1) MANE Select | NP_001366429.1:p.Gly1283Trp |