UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123620300A>G , CM000665.2:g.123620300A>G | GRCh38 |
| NC_000003.11:g.123339147A>G , CM000665.1:g.123339147A>G | GRCh37 |
| NC_000003.10:g.124821837A>G | NCBI36 |
| NG_029111.1:g.269003T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346322.10:c.4915T>C (MYLK) | ENSP00000320622.6:p.Ser1639Pro | |
| ENST00000508240.2:c.1675T>C (MYLK) | ENSP00000422984.2:p.Ser559Pro | |
| ENST00000578202.2:c.-6T>C (MYLK) | ENSP00000463691.2:n.-6T>C | |
| ENST00000583087.6:c.-6T>C (MYLK) | ENSP00000462118.1:n.-6T>C | |
| ENST00000684879.1:n.2907T>C (MYLK) | ||
| ENST00000684882.1:c.-6T>C (MYLK) | ENSP00000510459.1:n.-6T>C | |
| ENST00000685021.1:c.2509T>C (MYLK) | ENSP00000508447.1:p.Ser837Pro | |
| ENST00000685170.1:n.488T>C (MYLK) | ||
| ENST00000685259.1:c.2794T>C (MYLK) | ||
| ENST00000685665.1:c.-6T>C (MYLK) | ENSP00000509561.1:n.-6T>C | |
| ENST00000685744.1:c.-6T>C (MYLK) | ENSP00000510047.1:n.-6T>C | |
| ENST00000685907.1:n.3056T>C (MYLK) | ||
| ENST00000685953.1:c.1675T>C (MYLK) | ENSP00000510593.1:p.Ser559Pro | |
| ENST00000686039.1:c.2659T>C (MYLK) | ||
| ENST00000686245.1:c.2392T>C (MYLK) | ENSP00000509313.1:p.Ser798Pro | |
| ENST00000686281.1:n.567T>C (MYLK) | ||
| ENST00000686406.1:c.5275T>C (MYLK) | ENSP00000509044.1:p.Ser1759Pro | |
| ENST00000686458.1:n.1777T>C (MYLK) | ||
| ENST00000686761.1:c.5275T>C (MYLK) | ENSP00000508758.1:p.Ser1759Pro | |
| ENST00000686822.1:n.5169T>C (MYLK) | ||
| ENST00000687375.1:c.-6T>C (MYLK) | ENSP00000509867.1:n.-6T>C | |
| ENST00000687434.1:c.*1491T>C (MYLK) | ENSP00000509751.1:n.*1491T>C | |
| ENST00000687709.1:n.3330T>C (MYLK) | ||
| ENST00000687848.1:c.5305T>C (MYLK) | ENSP00000508761.1:p.Ser1769Pro | |
| ENST00000688024.1:c.2509T>C (MYLK) | ENSP00000509803.1:p.Ser837Pro | |
| ENST00000688223.1:c.2305T>C (MYLK) | ENSP00000508935.1:p.Ser769Pro | |
| ENST00000689446.1:n.480T>C (MYLK) | ||
| ENST00000689868.1:n.5535T>C (MYLK) | ||
| ENST00000689918.1:n.1350T>C (MYLK) | ||
| ENST00000690086.1:n.1376T>C (MYLK) | ||
| ENST00000690167.1:n.2946T>C (MYLK) | ||
| ENST00000690457.1:c.4513T>C (MYLK) | ENSP00000508777.1:p.Ser1505Pro | |
| ENST00000690534.1:n.1796T>C (MYLK) | ||
| ENST00000691933.1:c.2899T>C (MYLK) | ||
| ENST00000692356.1:c.-6T>C (MYLK) | ENSP00000509805.1:n.-6T>C | |
| ENST00000693689.1:c.5068T>C (MYLK) | ENSP00000510503.1:p.Ser1690Pro | |
| ENST00000360304.8:c.5275T>C (MYLK) MANE Select | ENSP00000353452.3:p.Ser1759Pro | |
| ENST00000346322.9:c.5068T>C (MYLK) | ENSP00000320622.5:p.Ser1690Pro | |
| ENST00000354792.9:c.5068T>C (MYLK) | ENSP00000346846.6:p.Ser1690Pro | |
| ENST00000359169.5:c.5122T>C (MYLK) | ENSP00000352088.1:p.Ser1708Pro | |
| ENST00000360304.7:c.5275T>C (MYLK) | ENSP00000353452.3:p.Ser1759Pro | |
| ENST00000360772.7:c.5122T>C (MYLK) | ENSP00000354004.3:p.Ser1708Pro | |
| ENST00000418370.6:c.-6T>C (MYLK) | ENSP00000428967.1:n.-6T>C | |
| ENST00000464489.5:c.*4854T>C (MYLK) | ENSP00000417798.1:n.*4854T>C | |
| ENST00000475616.5:c.5275T>C (MYLK) | ENSP00000418335.1:p.Ser1759Pro | |
| ENST00000515434.1:n.3779T>C (MYLK) | ||
| ENST00000578202.1:c.-6T>C (MYLK) | ENSP00000463691.1:n.-6T>C | |
| ENST00000583087.5:c.-6T>C (MYLK) | ENSP00000462118.1:n.-6T>C | |
| NM_053025.3:c.5275T>C (MYLK) | NP_444253.3:p.Ser1759Pro | |
| NM_053026.3:c.5068T>C (MYLK) | NP_444254.3:p.Ser1690Pro | |
| NM_053027.3:c.5122T>C (MYLK) | NP_444255.3:p.Ser1708Pro | |
| NM_053028.3:c.4915T>C (MYLK) | NP_444256.3:p.Ser1639Pro | |
| NM_053031.2:c.-6T>C (MYLK) | NP_444259.1:n.-6T>C | |
| NM_053032.2:c.-6T>C (MYLK) | NP_444260.1:n.-6T>C | |
| NR_038266.2:n.290-9194A>G (MYLK-AS1) | ||
| NR_121654.1:n.197-9194A>G (MYLK-AS1) | ||
| XM_011512860.1:c.5275T>C (MYLK) | XP_011511162.1:p.Ser1759Pro | |
| XM_011512861.1:c.5071T>C (MYLK) | XP_011511163.1:p.Ser1691Pro | |
| XM_011512862.1:c.4747T>C (MYLK) | XP_011511164.1:p.Ser1583Pro | |
| NM_001321309.1:c.4747T>C (MYLK) | NP_001308238.1:p.Ser1583Pro | |
| NM_053031.3:c.-6T>C (MYLK) | NP_444259.1:n.-6T>C | |
| NM_053032.3:c.-6T>C (MYLK) | NP_444260.1:n.-6T>C | |
| XM_011512860.3:c.5305T>C (MYLK) | XP_011511162.2:p.Ser1769Pro | |
| XM_011512861.3:c.5101T>C (MYLK) | XP_011511163.2:p.Ser1701Pro | |
| XM_017006469.2:c.2509T>C (MYLK) | XP_016861958.1:p.Ser837Pro | |
| XM_017006470.2:c.1675T>C (MYLK) | XP_016861959.1:p.Ser559Pro | |
| XM_017006471.2:c.1675T>C (MYLK) | XP_016861960.1:p.Ser559Pro | |
| XM_017006472.2:c.-6T>C (MYLK) | XP_016861961.1:n.-6T>C | |
| XM_017006473.1:c.-6T>C (MYLK) | XP_016861962.1:n.-6T>C | |
| XM_024453532.1:c.5305T>C (MYLK) | XP_024309300.1:p.Ser1769Pro | |
| XM_024453533.1:c.5275T>C (MYLK) | XP_024309301.1:p.Ser1759Pro | |
| XM_024453534.1:c.5098T>C (MYLK) | XP_024309302.1:p.Ser1700Pro | |
| XM_024453535.1:c.5068T>C (MYLK) | XP_024309303.1:p.Ser1690Pro | |
| XM_024453536.1:c.5275T>C (MYLK) | XP_024309304.1:p.Ser1759Pro | |
| XM_024453537.1:c.5275T>C (MYLK) | XP_024309305.1:p.Ser1759Pro | |
| NM_001321309.2:c.4747T>C (MYLK) | NP_001308238.1:p.Ser1583Pro | |
| NM_053025.4:c.5275T>C (MYLK) MANE Select | NP_444253.3:p.Ser1759Pro | |
| NM_053026.4:c.5068T>C (MYLK) | NP_444254.3:p.Ser1690Pro | |
| NM_053027.4:c.5122T>C (MYLK) | NP_444255.3:p.Ser1708Pro | |
| NM_053028.4:c.4915T>C (MYLK) | NP_444256.3:p.Ser1639Pro | |
| NM_053031.4:c.-6T>C (MYLK) | NP_444259.1:n.-6T>C | |
| NM_053032.4:c.-6T>C (MYLK) | NP_444260.1:n.-6T>C |