Revel Score:
ENST00000315099 (MANE Select)
0.039
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.94015035C>T , CM000665.2:g.94015035C>T | GRCh38 |
| NC_000003.11:g.93733879C>T , CM000665.1:g.93733879C>T | GRCh37 |
| NC_000003.10:g.95216569C>T | NCBI36 |
| NG_017076.1:g.39897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315099.3:c.235G>A (STX19) MANE Select | ENSP00000320679.2:p.Val79Met | |
| ENST00000394222.8:c.380+11127C>T (ARL13B) MANE Select | ENSP00000377769.3:n.380+11127C>T | |
| ENST00000486562.2:c.60-20296C>T (ARL13B) | ENSP00000505366.1:n.60-20296C>T | |
| ENST00000679404.1:c.305+11127C>T (ARL13B) | ENSP00000505252.1:n.305+11127C>T | |
| ENST00000679587.1:c.380+11127C>T (ARL13B) | ENSP00000505396.1:n.380+11127C>T | |
| ENST00000679601.1:c.*232+11127C>T (ARL13B) | ENSP00000506200.1:n.*232+11127C>T | |
| ENST00000679607.1:c.-457-20296C>T (ARL13B) | ENSP00000505148.1:n.-457-20296C>T | |
| ENST00000679654.1:c.252+18351C>T (ARL13B) | ENSP00000505178.1:n.252+18351C>T | |
| ENST00000679657.1:c.-32-34371C>T (ARL13B) | ENSP00000505494.1:n.-32-34371C>T | |
| ENST00000679666.1:c.9-20296C>T (ARL13B) | ENSP00000506469.1:n.9-20296C>T | |
| ENST00000679739.1:c.71+11127C>T (ARL13B) | ENSP00000506703.1:n.71+11127C>T | |
| ENST00000679872.1:c.329+11127C>T (ARL13B) | ENSP00000505607.1:n.329+11127C>T | |
| ENST00000680414.1:c.*232+11127C>T (ARL13B) | ENSP00000506063.1:n.*232+11127C>T | |
| ENST00000680430.1:c.629+11127C>T (ARL13B) | ENSP00000504943.1:n.629+11127C>T | |
| ENST00000680994.1:n.410+19091C>T (ARL13B) | ||
| ENST00000681013.1:c.380+11127C>T (ARL13B) | ENSP00000506243.1:n.380+11127C>T | |
| ENST00000681247.1:c.60-21517C>T (ARL13B) | ENSP00000505168.1:n.60-21517C>T | |
| ENST00000681380.1:c.380+11127C>T (ARL13B) | ENSP00000505402.1:n.380+11127C>T | |
| ENST00000681655.1:c.305+11127C>T (ARL13B) | ENSP00000505036.1:n.305+11127C>T | |
| ENST00000303097.11:c.60-20296C>T (ARL13B) | ENSP00000306225.7:n.60-20296C>T | |
| ENST00000315099.2:c.235G>A (STX19) | ENSP00000320679.2:p.Val79Met | |
| ENST00000335438.7:c.*232+11127C>T (ARL13B) | ENSP00000335400.3:n.*232+11127C>T | |
| ENST00000394222.7:c.380+11127C>T (ARL13B) | ENSP00000377769.3:n.380+11127C>T | |
| ENST00000460371.5:c.130+19091C>T (ARL13B) | ENSP00000417263.1:n.130+19091C>T | |
| ENST00000471138.5:c.380+11127C>T (ARL13B) | ENSP00000420780.1:n.380+11127C>T | |
| ENST00000486562.1:n.336+19091C>T (ARL13B) | ||
| ENST00000535334.5:c.71+11127C>T (ARL13B) | ENSP00000445145.1:n.71+11127C>T | |
| NM_001001850.2:c.235G>A (STX19) | NP_001001850.1:p.Val79Met | |
| NM_001174150.1:c.380+11127C>T (ARL13B) | NP_001167621.1:n.380+11127C>T | |
| NM_001174151.1:c.71+11127C>T (ARL13B) | NP_001167622.1:n.71+11127C>T | |
| NM_144996.3:c.60-20296C>T (ARL13B) | NP_659433.2:n.60-20296C>T | |
| NM_182896.2:c.380+11127C>T (ARL13B) | NP_878899.1:n.380+11127C>T | |
| NR_033427.1:n.415+19091C>T (ARL13B) | ||
| XM_006713531.2:c.335+11127C>T (ARL13B) | XP_006713594.1:n.335+11127C>T | |
| XM_006713532.2:c.335+11127C>T (ARL13B) | XP_006713595.1:n.335+11127C>T | |
| XM_011512532.1:c.344+11127C>T (ARL13B) | XP_011510834.1:n.344+11127C>T | |
| XM_011512533.1:c.344+11127C>T (ARL13B) | XP_011510835.1:n.344+11127C>T | |
| XM_011512534.1:c.335+11127C>T (ARL13B) | XP_011510836.1:n.335+11127C>T | |
| XM_011512535.1:c.305+11127C>T (ARL13B) | XP_011510837.1:n.305+11127C>T | |
| XM_011512536.1:c.71+11127C>T (ARL13B) | XP_011510838.1:n.71+11127C>T | |
| XM_011512842.1:c.235G>A (STX19) | XP_011511144.1:p.Val79Met | |
| NM_001321328.1:c.335+11127C>T (ARL13B) | NP_001308257.1:n.335+11127C>T | |
| NR_135621.1:n.411+19091C>T (ARL13B) | ||
| XM_006713532.3:c.335+11127C>T (ARL13B) | XP_006713595.1:n.335+11127C>T | |
| XM_011512532.2:c.344+11127C>T (ARL13B) | XP_011510834.1:n.344+11127C>T | |
| XM_011512533.2:c.344+11127C>T (ARL13B) | XP_011510835.1:n.344+11127C>T | |
| XM_011512534.2:c.335+11127C>T (ARL13B) | XP_011510836.1:n.335+11127C>T | |
| XM_011512535.2:c.305+11127C>T (ARL13B) | XP_011510837.1:n.305+11127C>T | |
| XM_011512842.2:c.235G>A (STX19) | XP_011511144.1:p.Val79Met | |
| XM_017005853.1:c.71+11127C>T (ARL13B) | XP_016861342.1:n.71+11127C>T | |
| NM_001001850.3:c.235G>A (STX19) MANE Select | NP_001001850.1:p.Val79Met | |
| NM_001174150.2:c.380+11127C>T (ARL13B) MANE Select | NP_001167621.1:n.380+11127C>T | |
| NM_001321328.2:c.335+11127C>T (ARL13B) | NP_001308257.1:n.335+11127C>T | |
| NM_144996.4:c.60-20296C>T (ARL13B) | NP_659433.2:n.60-20296C>T | |
| NM_182896.3:c.380+11127C>T (ARL13B) | NP_878899.1:n.380+11127C>T | |
| NR_033427.2:n.399+19091C>T (ARL13B) | ||
| NR_135621.2:n.395+19091C>T (ARL13B) | ||
| NM_001174151.2:c.71+11127C>T (ARL13B) | NP_001167622.1:n.71+11127C>T |