Revel Score:
ENST00000354655 (MANE Select)
0.256
ENST00000393081
0.256
ENST00000356116
0.256
ENST00000433418
0.256
ENST00000354273
0.256
ENST00000369410
0.256
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.112425357T>C , CM000672.2:g.112425357T>C | GRCh38 |
| NC_000010.10:g.114185115T>C , CM000672.1:g.114185115T>C | GRCh37 |
| NC_000010.9:g.114175105T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354273.5:c.1655T>C (ACSL5) | ENSP00000346223.5:p.Ile552Thr | |
| ENST00000354655.9:c.1613T>C (ACSL5) MANE Select | ENSP00000346680.4:p.Ile538Thr | |
| ENST00000356116.6:c.1781T>C (ACSL5) | ENSP00000348429.1:p.Ile594Thr | |
| ENST00000393081.6:c.1613T>C (ACSL5) | ENSP00000376796.1:p.Ile538Thr | |
| ENST00000433418.6:c.1781T>C (ACSL5) | ENSP00000403647.2:p.Ile594Thr | |
| ENST00000682267.1:c.*280A>G (ZDHHC6) | ENSP00000507679.1:n.*280A>G | |
| ENST00000683505.1:c.*229A>G (ZDHHC6) | ENSP00000508215.1:n.*229A>G | |
| ENST00000354273.4:c.1613T>C (ACSL5) | ENSP00000346223.4:p.Ile538Thr | |
| ENST00000354655.8:c.1613T>C (ACSL5) | ENSP00000346680.4:p.Ile538Thr | |
| ENST00000356116.5:c.1781T>C (ACSL5) | ENSP00000348429.1:p.Ile594Thr | |
| ENST00000393081.5:c.1613T>C (ACSL5) | ENSP00000376796.1:p.Ile538Thr | |
| ENST00000433418.5:c.1613T>C (ACSL5) | ENSP00000403647.1:p.Ile538Thr | |
| ENST00000496328.1:n.192T>C (ACSL5) | ||
| ENST00000626395.2:c.*280A>G (ZDHHC6) | ENSP00000486105.1:n.*280A>G | |
| NM_016234.3:c.1781T>C (ACSL5) | NP_057318.2:p.Ile594Thr | |
| NM_203379.1:c.1613T>C (ACSL5) | NP_976313.1:p.Ile538Thr | |
| NM_203380.1:c.1613T>C (ACSL5) | NP_976314.1:p.Ile538Thr | |
| NM_001363544.1:c.*280A>G (ZDHHC6) | NP_001350473.1:n.*280A>G | |
| XM_011540091.2:c.*280A>G (ZDHHC6) | XP_011538393.1:n.*280A>G | |
| XM_017016324.2:c.1781T>C (ACSL5) | XP_016871813.1:p.Ile594Thr | |
| XM_017016564.2:c.*280A>G (ZDHHC6) | XP_016872053.1:n.*280A>G | |
| NM_001363544.2:c.*280A>G (ZDHHC6) | NP_001350473.1:n.*280A>G | |
| NM_203379.2:c.1613T>C (ACSL5) MANE Select | NP_976313.1:p.Ile538Thr | |
| NM_001387037.1:c.1781T>C (ACSL5) | NP_001373966.1:p.Ile594Thr | |
| NM_016234.4:c.1781T>C (ACSL5) | NP_057318.2:p.Ile594Thr | |
| NM_203380.2:c.1613T>C (ACSL5) | NP_976314.1:p.Ile538Thr |