Revel Score:
ENST00000394026
0.688
ENST00000555376
0.688
ENST00000238709
0.688
ENST00000334571 (MANE Select)
0.688
ENST00000557780
0.688
ENST00000556299
0.688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73961339C>A , CM000676.2:g.73961339C>A | GRCh38 |
| NC_000014.8:g.74428042C>A , CM000676.1:g.74428042C>A | GRCh37 |
| NC_000014.7:g.73497795C>A | NCBI36 |
| NG_032805.1:g.16406C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334571.7:c.1058C>A (COQ6) MANE Select | ENSP00000333946.2:p.Ala353Asp | |
| ENST00000238709.8:c.1055C>A (COQ6) | ENSP00000238709.5:p.Ala352Asp | |
| ENST00000334571.6:c.1058C>A (COQ6) | ENSP00000333946.2:p.Ala353Asp | |
| ENST00000394026.8:c.983C>A (COQ6) | ENSP00000377594.4:p.Ala328Asp | |
| ENST00000554341.6:c.*663C>A (COQ6) | ENSP00000450736.2:n.*663C>A | |
| ENST00000554920.5:c.482-1631C>A (COQ6) | ENSP00000451562.1:n.482-1631C>A | |
| ENST00000555829.5:c.436G>T (ENTPD5) | ||
| ENST00000556299.1:n.269C>A (COQ6) | ||
| ENST00000556588.5:n.2658C>A (COQ6) | ||
| ENST00000557325.5:c.1201-1786G>T (ENTPD5) | ENSP00000451810.1:n.1201-1786G>T | |
| ENST00000557780.5:n.191C>A (COQ6) | ||
| ENST00000629426.2:c.833C>A (COQ6) | ENSP00000486650.1:p.Ala278Asp | |
| NM_182476.2:c.1058C>A (COQ6) | NP_872282.1:p.Ala353Asp | |
| NM_182480.2:c.983C>A (COQ6) | NP_872286.2:p.Ala328Asp | |
| XM_005267716.1:c.893C>A (COQ6) | XP_005267773.1:p.Ala298Asp | |
| XM_006720156.1:c.731C>A (COQ6) | XP_006720219.1:p.Ala244Asp | |
| XM_006720325.2:c.1201-1786G>T (ENTPD5) | XP_006720388.1:n.1201-1786G>T | |
| XM_011536807.1:c.950C>A (COQ6) | XP_011535109.1:p.Ala317Asp | |
| XM_011536808.1:c.833C>A (COQ6) | XP_011535110.1:p.Ala278Asp | |
| XM_011536809.1:c.833C>A (COQ6) | XP_011535111.1:p.Ala278Asp | |
| XM_011536810.1:c.892-1631C>A (COQ6) | XP_011535112.1:n.892-1631C>A | |
| XM_011536811.1:c.518C>A (COQ6) | XP_011535113.1:p.Ala173Asp | |
| NM_001321984.1:c.*194G>T (ENTPD5) | NP_001308913.1:n.*194G>T | |
| NM_001330189.1:c.1201-1786G>T (ENTPD5) | NP_001317118.1:n.1201-1786G>T | |
| XM_006720325.3:c.1201-1786G>T (ENTPD5) | XP_006720388.1:n.1201-1786G>T | |
| XM_011536807.2:c.950C>A (COQ6) | XP_011535109.1:p.Ala317Asp | |
| XM_011536808.2:c.833C>A (COQ6) | XP_011535110.1:p.Ala278Asp | |
| XM_011536809.3:c.833C>A (COQ6) | XP_011535111.1:p.Ala278Asp | |
| XM_011536810.3:c.892-1631C>A (COQ6) | XP_011535112.1:n.892-1631C>A | |
| XM_017021351.2:c.518C>A (COQ6) | XP_016876840.1:p.Ala173Asp | |
| XM_017021352.2:c.452C>A (COQ6) | XP_016876841.1:p.Ala151Asp | |
| XM_017021814.1:c.1201-1786G>T (ENTPD5) | XP_016877303.1:n.1201-1786G>T | |
| XM_017021817.1:c.1060-1786G>T (ENTPD5) | XP_016877306.1:n.1060-1786G>T | |
| XM_024449619.1:c.452C>A (COQ6) | XP_024305387.1:p.Ala151Asp | |
| XR_001750342.1:n.1212C>A (COQ6) | ||
| NM_001321984.2:c.*194G>T (ENTPD5) | NP_001308913.1:n.*194G>T | |
| NM_001330189.2:c.1201-1786G>T (ENTPD5) | NP_001317118.1:n.1201-1786G>T | |
| NM_182476.3:c.1058C>A (COQ6) MANE Select | NP_872282.1:p.Ala353Asp | |
| NM_001382258.1:c.1201-5752G>T (ENTPD5) | NP_001369187.1:n.1201-5752G>T | |
| NM_001382259.1:c.1201-1786G>T (ENTPD5) | NP_001369188.1:n.1201-1786G>T | |
| NM_001382260.1:c.1201-1786G>T (ENTPD5) | NP_001369189.1:n.1201-1786G>T | |
| NM_001382262.1:c.1201-5511G>T (ENTPD5) | NP_001369191.1:n.1201-5511G>T | |
| NM_182480.3:c.983C>A (COQ6) | NP_872286.2:p.Ala328Asp |