Linked Data
ClinVar Variation Id:
299801
ClinVar RCV Id:
RCV000262564
dbSNP Id:
rs886046960
gnomAD v4:
10-27186413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27186413C>T , CM000672.2:g.27186413C>T | GRCh38 |
| NC_000010.10:g.27475342C>T , CM000672.1:g.27475342C>T | GRCh37 |
| NC_000010.9:g.27515348C>T | NCBI36 |
| NG_016987.1:g.36590C>T | |
| NG_032960.3:g.67262G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375940.9:c.2517C>T (MASTL) MANE Select | ENSP00000365107.5:p.Asp839= | |
| ENST00000676511.1:c.1494-3698G>A (ACBD5) | ENSP00000504333.1:n.1494-3698G>A | |
| ENST00000676997.1:c.1566-2098G>A (ACBD5) | ENSP00000503467.1:n.1566-2098G>A | |
| ENST00000677440.1:c.1272-16143G>A (ACBD5) | ENSP00000504580.1:n.1272-16143G>A | |
| ENST00000342386.10:c.2400C>T (MASTL) | ENSP00000343446.5:p.Asp800= | |
| ENST00000375940.8:c.2517C>T (MASTL) | ENSP00000365107.4:p.Asp839= | |
| ENST00000375946.8:c.2514C>T (MASTL) | ENSP00000365113.4:p.Asp838= | |
| ENST00000477034.2:c.1317C>T (MASTL) | ENSP00000478938.1:p.Asp439= | |
| NM_001172303.1:c.2517C>T (MASTL) | NP_001165774.1:p.Asp839= | |
| NM_001172304.1:c.2400C>T (MASTL) | NP_001165775.1:p.Asp800= | |
| NM_032844.3:c.2514C>T (MASTL) | NP_116233.2:p.Asp838= | |
| XM_005252630.2:c.2529C>T (MASTL) | XP_005252687.1:p.Asp843= | |
| XM_005252631.2:c.2403C>T (MASTL) | XP_005252688.1:p.Asp801= | |
| XM_005252632.2:c.2301C>T (MASTL) | XP_005252689.1:p.Asp767= | |
| XM_006717518.2:c.2532C>T (MASTL) | XP_006717581.1:p.Asp844= | |
| XM_006717519.2:c.2430C>T (MASTL) | XP_006717582.1:p.Asp810= | |
| XM_011519751.1:c.1521C>T (MASTL) | XP_011518053.1:p.Asp507= | |
| XR_930523.1:n.2450C>T (MASTL) | ||
| NM_001172303.2:c.2517C>T (MASTL) | NP_001165774.1:p.Asp839= | |
| NM_001172304.2:c.2400C>T (MASTL) | NP_001165775.1:p.Asp800= | |
| NM_001320756.1:c.2529C>T (MASTL) | NP_001307685.1:p.Asp843= | |
| NM_001320757.1:c.2532C>T (MASTL) | NP_001307686.1:p.Asp844= | |
| NM_001352570.1:c.1566-2098G>A (ACBD5) | NP_001339499.1:n.1566-2098G>A | |
| NM_032844.4:c.2514C>T (MASTL) | NP_116233.2:p.Asp838= | |
| NR_135469.1:n.2978C>T (MASTL) | ||
| XM_005252631.4:c.2403C>T (MASTL) | XP_005252688.1:p.Asp801= | |
| XM_005252632.4:c.2301C>T (MASTL) | XP_005252689.1:p.Asp767= | |
| XM_006717519.4:c.2430C>T (MASTL) | XP_006717582.1:p.Asp810= | |
| XM_011519751.2:c.1521C>T (MASTL) | XP_011518053.1:p.Asp507= | |
| XM_017016852.2:c.2412C>T (MASTL) | XP_016872341.1:p.Asp804= | |
| XM_017016853.2:c.2385C>T (MASTL) | XP_016872342.1:p.Asp795= | |
| XM_017016856.2:c.*29C>T (MASTL) | XP_016872345.1:n.*29C>T | |
| XM_017016884.2:c.1791-2098G>A (ACBD5) | XP_016872373.1:n.1791-2098G>A | |
| XM_017016885.2:c.1758-2098G>A (ACBD5) | XP_016872374.1:n.1758-2098G>A | |
| XM_017016887.2:c.1620-2098G>A (ACBD5) | XP_016872376.1:n.1620-2098G>A | |
| XM_017016888.2:c.1599-2098G>A (ACBD5) | XP_016872377.1:n.1599-2098G>A | |
| XM_017016889.2:c.1587-2098G>A (ACBD5) | XP_016872378.1:n.1587-2098G>A | |
| XM_017016890.2:c.1587-2098G>A (ACBD5) | XP_016872379.1:n.1587-2098G>A | |
| XM_017016893.2:c.1554-2098G>A (ACBD5) | XP_016872382.1:n.1554-2098G>A | |
| XM_017016895.2:c.1494-2098G>A (ACBD5) | XP_016872384.1:n.1494-2098G>A | |
| XM_017016896.1:c.1461-2098G>A (ACBD5) | XP_016872385.1:n.1461-2098G>A | |
| XM_017016898.2:c.1362-2098G>A (ACBD5) | XP_016872387.1:n.1362-2098G>A | |
| XM_017016900.1:c.1272-2098G>A (ACBD5) | XP_016872389.1:n.1272-2098G>A | |
| XM_017016901.1:c.1272-2098G>A (ACBD5) | XP_016872390.1:n.1272-2098G>A | |
| XM_017016904.1:c.1239-2098G>A (ACBD5) | XP_016872393.1:n.1239-2098G>A | |
| XM_017016905.1:c.1239-2098G>A (ACBD5) | XP_016872394.1:n.1239-2098G>A | |
| XM_024448243.1:c.2415C>T (MASTL) | XP_024304011.1:p.Asp805= | |
| XM_024448244.1:c.2298C>T (MASTL) | XP_024304012.1:p.Asp766= | |
| XM_024448248.1:c.1395-2098G>A (ACBD5) | XP_024304016.1:n.1395-2098G>A | |
| NM_001172303.3:c.2517C>T (MASTL) MANE Select | NP_001165774.1:p.Asp839= | |
| NM_001172304.3:c.2400C>T (MASTL) | NP_001165775.1:p.Asp800= | |
| NM_001320756.2:c.2529C>T (MASTL) | NP_001307685.1:p.Asp843= | |
| NM_001320757.2:c.2532C>T (MASTL) | NP_001307686.1:p.Asp844= | |
| NM_001372029.1:c.2049C>T (MASTL) | NP_001358958.1:p.Asp683= | |
| NM_001372030.1:c.2034C>T (MASTL) | NP_001358959.1:p.Asp678= | |
| NM_032844.5:c.2514C>T (MASTL) | NP_116233.2:p.Asp838= | |
| NR_135469.2:n.2450C>T (MASTL) |