Revel Score:
ENST00000400337
0.805
ENST00000400347
0.805
ENST00000355480
0.805
ENST00000359759
0.805
ENST00000539645
0.805
ENST00000342220
0.805
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45512225G>A , CM000683.2:g.45512225G>A | GRCh38 |
| NC_000021.8:g.46932139G>A , CM000683.1:g.46932139G>A | GRCh37 |
| NC_000021.7:g.45756567G>A | NCBI36 |
| NG_011903.1:g.112034G>A | |
| NG_028278.2:g.55919C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.4387G>A (COL18A1) | ENSP00000347665.5:p.Gly1463Arg | |
| ENST00000651438.1:c.3847G>A (COL18A1) MANE Select | ENSP00000498485.1:p.Gly1283Arg | |
| ENST00000342220.9:c.1891G>A (COL18A1) | ENSP00000339118.5:p.Gly631Arg | |
| ENST00000355480.9:c.4387G>A (COL18A1) | ENSP00000347665.5:p.Gly1463Arg | |
| ENST00000359759.8:c.5092G>A (COL18A1) | ENSP00000352798.4:p.Gly1698Arg | |
| ENST00000400337.6:c.3847G>A (COL18A1) | ENSP00000383191.2:p.Gly1283Arg | |
| ENST00000417954.5:c.497+13592C>T (SLC19A1) | ||
| ENST00000423214.1:c.801G>A (COL18A1) | ||
| ENST00000473212.1:n.2173G>A (COL18A1) | ||
| ENST00000567670.5:c.1293+13592C>T (SLC19A1) | ENSP00000457278.1:n.1293+13592C>T | |
| NM_030582.3:c.4378G>A (COL18A1) | NP_085059.2:p.Gly1460Arg | |
| NM_130444.2:c.5083G>A (COL18A1) | NP_569711.2:p.Gly1695Arg | |
| NM_130445.3:c.3838G>A (COL18A1) | NP_569712.2:p.Gly1280Arg | |
| XM_011529707.1:c.1585-9256C>T (SLC19A1) | XP_011528009.1:n.1585-9256C>T | |
| XM_017028445.2:c.1585-9256C>T (SLC19A1) | XP_016883934.1:n.1585-9256C>T | |
| NM_030582.4:c.4378G>A (COL18A1) | NP_085059.2:p.Gly1460Arg | |
| NM_130444.3:c.5083G>A (COL18A1) | NP_569711.2:p.Gly1695Arg | |
| NM_130445.4:c.3838G>A (COL18A1) | NP_569712.2:p.Gly1280Arg | |
| NM_001379500.1:c.3847G>A (COL18A1) MANE Select | NP_001366429.1:p.Gly1283Arg |