Revel Score:
ENST00000432519
0.022
ENST00000334133 (MANE Select)
0.022
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.16317048T>C , CM000665.2:g.16317048T>C | GRCh38 |
| NC_000003.11:g.16358555T>C , CM000665.1:g.16358555T>C | GRCh37 |
| NC_000003.10:g.16333559T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334133.9:c.1517A>G (RFTN1) MANE Select | ENSP00000334153.4:p.Glu506Gly | |
| ENST00000334133.8:c.1517A>G (RFTN1) | ENSP00000334153.4:p.Glu506Gly | |
| ENST00000432519.5:c.1409A>G (RFTN1) | ENSP00000403926.1:p.Glu470Gly | |
| ENST00000435829.6:c.*30+13456T>C (OXNAD1) | ENSP00000389872.2:n.*30+13456T>C | |
| ENST00000483671.1:n.796A>G (RFTN1) | ||
| ENST00000605932.5:c.*30+13456T>C (OXNAD1) | ENSP00000475547.1:n.*30+13456T>C | |
| ENST00000606098.1:c.*30+13456T>C (OXNAD1) | ENSP00000476239.1:n.*30+13456T>C | |
| ENST00000607320.5:c.235+127A>G (RFTN1) | ENSP00000475367.1:n.235+127A>G | |
| NM_015150.1:c.1517A>G (RFTN1) | NP_055965.1:p.Glu506Gly | |
| XM_005264985.1:c.1517A>G (RFTN1) | XP_005265042.1:p.Glu506Gly | |
| XM_005264986.1:c.1517A>G (RFTN1) | XP_005265043.1:p.Glu506Gly | |
| XM_005264987.2:c.1427A>G (RFTN1) | XP_005265044.1:p.Glu476Gly | |
| XM_005265559.2:c.*31-5349T>C (OXNAD1) | XP_005265616.1:n.*31-5349T>C | |
| XM_006713069.1:c.1517A>G (RFTN1) | XP_006713132.1:p.Glu506Gly | |
| XM_011533529.1:c.1622A>G (RFTN1) | XP_011531831.1:p.Glu541Gly | |
| XM_011533530.1:c.1517A>G (RFTN1) | XP_011531832.1:p.Glu506Gly | |
| XM_011533531.1:c.*123A>G (RFTN1) | XP_011531833.1:n.*123A>G | |
| XM_011534231.1:c.*31-2413T>C (OXNAD1) | XP_011532533.1:n.*31-2413T>C | |
| XM_011534232.1:c.*30+13456T>C (OXNAD1) | XP_011532534.1:n.*30+13456T>C | |
| XM_011534233.1:c.*30+13456T>C (OXNAD1) | XP_011532535.1:n.*30+13456T>C | |
| XM_011534234.1:c.*30+13456T>C (OXNAD1) | XP_011532536.1:n.*30+13456T>C | |
| XM_011534235.1:c.*31-6051T>C (OXNAD1) | XP_011532537.1:n.*31-6051T>C | |
| XR_940508.1:n.1238+13456T>C (OXNAD1) | ||
| XR_940509.1:n.1238+13456T>C (OXNAD1) | ||
| XR_940510.1:n.1238+13456T>C (OXNAD1) | ||
| XR_940511.1:n.1239-5349T>C (OXNAD1) | ||
| XR_940512.1:n.1239-5349T>C (OXNAD1) | ||
| XR_940513.1:n.1469+13456T>C (OXNAD1) | ||
| NM_001330671.2:c.*30+13456T>C (OXNAD1) | NP_001317600.1:n.*30+13456T>C | |
| NM_001352977.1:c.*31-6051T>C (OXNAD1) | NP_001339906.1:n.*31-6051T>C | |
| NM_001352978.1:c.*30+13456T>C (OXNAD1) | NP_001339907.1:n.*30+13456T>C | |
| NM_001352981.1:c.*31-6051T>C (OXNAD1) | NP_001339910.1:n.*31-6051T>C | |
| NM_001352982.1:c.*30+13456T>C (OXNAD1) | NP_001339911.1:n.*30+13456T>C | |
| NM_001352983.1:c.*30+13456T>C (OXNAD1) | NP_001339912.1:n.*30+13456T>C | |
| NR_148217.1:n.1733-5349T>C (OXNAD1) | ||
| NR_148218.1:n.1733-5349T>C (OXNAD1) | ||
| NR_148219.1:n.1630-5349T>C (OXNAD1) | ||
| NR_148220.1:n.1629+13456T>C (OXNAD1) | ||
| XM_005264986.2:c.1517A>G (RFTN1) | XP_005265043.1:p.Glu506Gly | |
| XM_005265559.4:c.*31-5349T>C (OXNAD1) | XP_005265616.1:n.*31-5349T>C | |
| XM_011534233.3:c.*30+13456T>C (OXNAD1) | XP_011532535.1:n.*30+13456T>C | |
| XM_011534234.3:c.*30+13456T>C (OXNAD1) | XP_011532536.1:n.*30+13456T>C | |
| XM_011534235.3:c.*31-6051T>C (OXNAD1) | XP_011532537.1:n.*31-6051T>C | |
| XM_017006007.2:c.*123A>G (RFTN1) | XP_016861496.1:n.*123A>G | |
| XM_017007486.2:c.*31-5349T>C (OXNAD1) | XP_016862975.1:n.*31-5349T>C | |
| XM_017007487.2:c.*31-2413T>C (OXNAD1) | XP_016862976.1:n.*31-2413T>C | |
| XM_017007489.2:c.*30+13456T>C (OXNAD1) | XP_016862978.1:n.*30+13456T>C | |
| XM_017007491.2:c.*30+13456T>C (OXNAD1) | XP_016862980.1:n.*30+13456T>C | |
| XM_017007493.2:c.*31-2413T>C (OXNAD1) | XP_016862982.1:n.*31-2413T>C | |
| XR_001740364.2:n.1457-2413T>C (OXNAD1) | ||
| XR_001740365.2:n.1443+13456T>C (OXNAD1) | ||
| XR_002959606.1:n.1456+13456T>C (OXNAD1) | ||
| XR_002959607.1:n.1437+13456T>C (OXNAD1) | ||
| XR_002959608.1:n.1443+13456T>C (OXNAD1) | ||
| XR_002959609.1:n.1620+13456T>C (OXNAD1) | ||
| XR_940511.3:n.1457-5349T>C (OXNAD1) | ||
| XR_940512.3:n.1457-5349T>C (OXNAD1) | ||
| NM_015150.2:c.1517A>G (RFTN1) MANE Select | NP_055965.1:p.Glu506Gly | |
| NM_001330671.3:c.*30+13456T>C (OXNAD1) | NP_001317600.1:n.*30+13456T>C | |
| NM_001352978.2:c.*30+13456T>C (OXNAD1) | NP_001339907.1:n.*30+13456T>C | |
| NM_001352982.2:c.*30+13456T>C (OXNAD1) | NP_001339911.1:n.*30+13456T>C | |
| NM_001352983.2:c.*30+13456T>C (OXNAD1) | NP_001339912.1:n.*30+13456T>C | |
| NR_148220.2:n.1495+13456T>C (OXNAD1) | ||
| NM_001352977.2:c.*31-6051T>C (OXNAD1) | NP_001339906.1:n.*31-6051T>C | |
| NM_001352981.2:c.*31-6051T>C (OXNAD1) | NP_001339910.1:n.*31-6051T>C | |
| NR_148217.2:n.1599-5349T>C (OXNAD1) | ||
| NR_148218.2:n.1599-5349T>C (OXNAD1) | ||
| NR_148219.2:n.1496-5349T>C (OXNAD1) |