Revel Score:
ENST00000400337
0.038
ENST00000400347
0.038
ENST00000355480
0.038
ENST00000359759
0.038
ENST00000539645
0.038
ENST00000342220
0.038
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45509554C>G , CM000683.2:g.45509554C>G | GRCh38 |
| NC_000021.8:g.46929468C>G , CM000683.1:g.46929468C>G | GRCh37 |
| NC_000021.7:g.45753896C>G | NCBI36 |
| NG_011903.1:g.109363C>G | |
| NG_028278.2:g.58590G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3988C>G (COL18A1) | ENSP00000347665.5:p.Arg1330Gly | |
| ENST00000651438.1:c.3448C>G (COL18A1) MANE Select | ENSP00000498485.1:p.Arg1150Gly | |
| ENST00000342220.9:c.1492C>G (COL18A1) | ENSP00000339118.5:p.Arg498Gly | |
| ENST00000355480.9:c.3988C>G (COL18A1) | ENSP00000347665.5:p.Arg1330Gly | |
| ENST00000359759.8:c.4693C>G (COL18A1) | ENSP00000352798.4:p.Arg1565Gly | |
| ENST00000400337.6:c.3448C>G (COL18A1) | ENSP00000383191.2:p.Arg1150Gly | |
| ENST00000417954.5:c.498-10942G>C (SLC19A1) | ||
| ENST00000423214.1:c.402C>G (COL18A1) | ||
| ENST00000473212.1:n.1774C>G (COL18A1) | ||
| ENST00000567670.5:c.1294-10942G>C (SLC19A1) | ENSP00000457278.1:n.1294-10942G>C | |
| NM_030582.3:c.3979C>G (COL18A1) | NP_085059.2:p.Arg1327Gly | |
| NM_130444.2:c.4684C>G (COL18A1) | NP_569711.2:p.Arg1562Gly | |
| NM_130445.3:c.3439C>G (COL18A1) | NP_569712.2:p.Arg1147Gly | |
| XM_011529707.1:c.1585-6585G>C (SLC19A1) | XP_011528009.1:n.1585-6585G>C | |
| XM_017028445.2:c.1585-6585G>C (SLC19A1) | XP_016883934.1:n.1585-6585G>C | |
| NM_030582.4:c.3979C>G (COL18A1) | NP_085059.2:p.Arg1327Gly | |
| NM_130444.3:c.4684C>G (COL18A1) | NP_569711.2:p.Arg1562Gly | |
| NM_130445.4:c.3439C>G (COL18A1) | NP_569712.2:p.Arg1147Gly | |
| NM_001379500.1:c.3448C>G (COL18A1) MANE Select | NP_001366429.1:p.Arg1150Gly |