MyVariant.info:
GRCh37
chr1:g.36933239T>C
Revel Score:
ENST00000464465
0.078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36467638T>C , CM000663.2:g.36467638T>C | GRCh38 |
| NC_000001.10:g.36933239T>C , CM000663.1:g.36933239T>C | GRCh37 |
| NC_000001.9:g.36705826T>C | NCBI36 |
| NG_016270.1:g.20271A>G , LRG_144:g.20271A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464465.7:c.1776A>G | ENSP00000435218.2:p.Leu592= | |
| ENST00000487540.7:c.*172A>G | ENSP00000514169.2:n.*172A>G | |
| ENST00000699089.1:n.2858A>G | ||
| ENST00000699090.1:c.1482A>G | ENSP00000514168.1:p.Leu494= | |
| ENST00000373106.6:c.1878A>G MANE Select | ENSP00000362198.2:p.Leu626= | |
| ENST00000331941.6:c.1878A>G | ENSP00000332180.5:p.Leu626= | |
| ENST00000361632.8:c.1878A>G | ENSP00000355406.4:p.Leu626= | |
| ENST00000373103.5:c.1878A>G | ENSP00000362195.1:p.Leu626= | |
| ENST00000373104.5:c.1878A>G | ENSP00000362196.1:p.Leu626= | |
| ENST00000373106.5:c.1878A>G | ENSP00000362198.1:p.Leu626= | |
| ENST00000464465.6:c.533A>G | ||
| ENST00000466138.1:n.172A>G | ||
| ENST00000480825.6:n.4726A>G | ||
| ENST00000484762.1:n.269A>G | ||
| ENST00000487540.6:n.1059A>G | ||
| NM_000760.3:c.1878A>G | NP_000751.1:p.Leu626= | |
| NM_156039.3:c.1878A>G , LRG_144t1:c.1878A>G | NP_724781.1:p.Leu626= | |
| NM_172313.2:c.1878A>G | NP_758519.1:p.Leu626= | |
| XM_005270493.1:c.1878A>G | XP_005270550.1:p.Leu626= | |
| XM_011540748.1:c.1878A>G | XP_011539050.1:p.Leu626= | |
| XM_011540749.1:c.1878A>G | XP_011539051.1:p.Leu626= | |
| XM_011540750.1:c.1206A>G | XP_011539052.1:p.Leu402= | |
| XM_011540748.3:c.1878A>G | XP_011539050.1:p.Leu626= | |
| XM_017000370.1:c.1878A>G | XP_016855859.1:p.Leu626= | |
| NM_000760.4:c.1878A>G MANE Select | NP_000751.1:p.Leu626= | |
| NM_172313.3:c.1878A>G | NP_758519.1:p.Leu626= |