Revel Score:
ENST00000418175
0.487
ENST00000541991
0.487
ENST00000372965
0.487
ENST00000053469
0.487
ENST00000394237
0.487
ENST00000372958 (MANE Select)
0.487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42178328C>T , CM000668.2:g.42178328C>T | GRCh38 |
| NC_000006.11:g.42146066C>T , CM000668.1:g.42146066C>T | GRCh37 |
| NC_000006.10:g.42254044C>T | NCBI36 |
| NG_009938.1:g.27923C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703265.1:c.*485C>T (GUCA1ANB-GUCA1A) | ENSP00000515250.1:n.*485C>T | |
| ENST00000703266.1:c.*485C>T (GUCA1ANB-GUCA1A) | ENSP00000515251.1:n.*485C>T | |
| ENST00000703267.1:c.*748C>T (GUCA1ANB-GUCA1A) | ENSP00000515252.1:n.*748C>T | |
| ENST00000372958.2:c.250C>T (GUCA1A) MANE Select | ENSP00000362049.1:p.Leu84Phe | |
| ENST00000394237.6:c.*748C>T (CIMIP3) | ENSP00000377784.2:n.*748C>T | |
| ENST00000418175.6:c.*485C>T (CIMIP3) | ENSP00000388438.2:n.*485C>T | |
| ENST00000654459.1:c.250C>T (GUCA1A) | ENSP00000499539.1:p.Leu84Phe | |
| ENST00000659095.1:c.*485C>T (CIMIP3) | ENSP00000499714.1:n.*485C>T | |
| ENST00000679182.1:c.31C>T (GUCA1A) | ENSP00000504837.1:p.Leu11Phe | |
| ENST00000053469.8:c.250C>T (GUCA1A) | ENSP00000053469.4:p.Leu84Phe | |
| ENST00000372958.1:c.250C>T (GUCA1A) | ENSP00000362049.1:p.Leu84Phe | |
| ENST00000394237.5:c.250C>T (GUCA1A) | ENSP00000377784.1:p.Leu84Phe | |
| ENST00000418175.5:c.250C>T (GUCA1A) | ENSP00000388438.1:p.Leu84Phe | |
| ENST00000541991.5:c.238C>T (GUCA1A) | ENSP00000437476.2:p.Leu80Phe | |
| NM_000409.3:c.250C>T (GUCA1A) | NP_000400.2:p.Leu84Phe | |
| XM_006715073.2:c.31C>T (GUCA1A) | XP_006715136.1:p.Leu11Phe | |
| XM_011514536.1:c.250C>T (GUCA1A) | XP_011512838.1:p.Leu84Phe | |
| XM_011514537.1:c.250C>T (GUCA1A) | XP_011512839.1:p.Leu84Phe | |
| XM_011514538.1:c.250C>T (GUCA1A) | XP_011512840.1:p.Leu84Phe | |
| XM_011514539.1:c.250C>T (GUCA1A) | XP_011512841.1:p.Leu84Phe | |
| NM_000409.4:c.250C>T (GUCA1A) | NP_000400.2:p.Leu84Phe | |
| NM_001319061.1:c.250C>T (GUCA1A) | NP_001305990.1:p.Leu84Phe | |
| NM_001319062.1:c.250C>T (GUCA1A) | NP_001305991.1:p.Leu84Phe | |
| XM_006715073.3:c.31C>T (GUCA1A) | XP_006715136.1:p.Leu11Phe | |
| XM_011514537.2:c.250C>T (GUCA1A) | XP_011512839.1:p.Leu84Phe | |
| NM_000409.5:c.250C>T (GUCA1A) | NP_000400.2:p.Leu84Phe | |
| NM_001319061.2:c.250C>T (GUCA1A) | NP_001305990.1:p.Leu84Phe | |
| NM_001319062.2:c.250C>T (GUCA1A) | NP_001305991.1:p.Leu84Phe | |
| NM_001384910.1:c.250C>T (GUCA1A) MANE Select | NP_001371839.1:p.Leu84Phe |