ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123614118T>A , CM000665.2:g.123614118T>A | GRCh38 |
| NC_000003.11:g.123332965T>A , CM000665.1:g.123332965T>A | GRCh37 |
| NC_000003.10:g.124815655T>A | NCBI36 |
| NG_029111.1:g.275185A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.5372A>T (MYLK) | ENSP00000320622.6:p.Glu1791Val | |
| ENST00000508240.2:c.2132A>T (MYLK) | ENSP00000422984.2:p.Glu711Val | |
| ENST00000578202.2:c.*237A>T (MYLK) | ENSP00000463691.2:n.*237A>T | |
| ENST00000583087.6:c.452A>T (MYLK) | ENSP00000462118.1:p.Glu151Val | |
| ENST00000685021.1:c.2966A>T (MYLK) | ENSP00000508447.1:p.Glu989Val | |
| ENST00000685170.1:n.945A>T (MYLK) | ||
| ENST00000685259.1:c.3251A>T (MYLK) | ||
| ENST00000685744.1:c.449A>T (MYLK) | ENSP00000510047.1:p.Glu150Val | |
| ENST00000685907.1:n.3513A>T (MYLK) | ||
| ENST00000685953.1:c.2129A>T (MYLK) | ENSP00000510593.1:p.Glu710Val | |
| ENST00000686039.1:c.3116A>T (MYLK) | ||
| ENST00000686245.1:c.2849A>T (MYLK) | ENSP00000509313.1:p.Glu950Val | |
| ENST00000686281.1:n.1024A>T (MYLK) | ||
| ENST00000686406.1:c.5729A>T (MYLK) | ENSP00000509044.1:p.Glu1910Val | |
| ENST00000686458.1:n.2234A>T (MYLK) | ||
| ENST00000686761.1:c.5732A>T (MYLK) | ENSP00000508758.1:p.Glu1911Val | |
| ENST00000687375.1:c.449A>T (MYLK) | ENSP00000509867.1:p.Glu150Val | |
| ENST00000687434.1:c.*1948A>T (MYLK) | ENSP00000509751.1:n.*1948A>T | |
| ENST00000687709.1:n.3787A>T (MYLK) | ||
| ENST00000687848.1:c.5762A>T (MYLK) | ENSP00000508761.1:p.Glu1921Val | |
| ENST00000688024.1:c.2963A>T (MYLK) | ENSP00000509803.1:p.Glu988Val | |
| ENST00000688223.1:c.2762A>T (MYLK) | ENSP00000508935.1:p.Glu921Val | |
| ENST00000689446.1:n.934A>T (MYLK) | ||
| ENST00000689868.1:n.5992A>T (MYLK) | ||
| ENST00000689918.1:n.1807A>T (MYLK) | ||
| ENST00000690167.1:n.3400A>T (MYLK) | ||
| ENST00000690457.1:c.4970A>T (MYLK) | ENSP00000508777.1:p.Glu1657Val | |
| ENST00000690656.1:n.437A>T (MYLK) | ||
| ENST00000691367.1:n.428A>T (MYLK) | ||
| ENST00000691933.1:c.3356A>T (MYLK) | ||
| ENST00000692356.1:c.89-6A>T (MYLK) | ENSP00000509805.1:n.89-6A>T | |
| ENST00000692507.1:n.1536A>T (MYLK) | ||
| ENST00000693689.1:c.5525A>T (MYLK) | ENSP00000510503.1:p.Glu1842Val | |
| ENST00000360304.8:c.5732A>T (MYLK) MANE Select | ENSP00000353452.3:p.Glu1911Val | |
| ENST00000346322.9:c.5525A>T (MYLK) | ENSP00000320622.5:p.Glu1842Val | |
| ENST00000354792.9:c.5525A>T (MYLK) | ENSP00000346846.6:p.Glu1842Val | |
| ENST00000359169.5:c.5579A>T (MYLK) | ENSP00000352088.1:p.Glu1860Val | |
| ENST00000360304.7:c.5732A>T (MYLK) | ENSP00000353452.3:p.Glu1911Val | |
| ENST00000360772.7:c.5579A>T (MYLK) | ENSP00000354004.3:p.Glu1860Val | |
| ENST00000418370.6:c.452A>T (MYLK) | ENSP00000428967.1:p.Glu151Val | |
| ENST00000464489.5:c.*5311A>T (MYLK) | ENSP00000417798.1:n.*5311A>T | |
| ENST00000475616.5:c.5732A>T (MYLK) | ENSP00000418335.1:p.Glu1911Val | |
| ENST00000578202.1:c.449A>T (MYLK) | ENSP00000463691.1:p.Glu150Val | |
| ENST00000583087.5:c.452A>T (MYLK) | ENSP00000462118.1:p.Glu151Val | |
| NM_053025.3:c.5732A>T (MYLK) | NP_444253.3:p.Glu1911Val | |
| NM_053026.3:c.5525A>T (MYLK) | NP_444254.3:p.Glu1842Val | |
| NM_053027.3:c.5579A>T (MYLK) | NP_444255.3:p.Glu1860Val | |
| NM_053028.3:c.5372A>T (MYLK) | NP_444256.3:p.Glu1791Val | |
| NM_053031.2:c.449A>T (MYLK) | NP_444259.1:p.Glu150Val | |
| NM_053032.2:c.452A>T (MYLK) | NP_444260.1:p.Glu151Val | |
| NR_038266.2:n.290-15376T>A (MYLK-AS1) | ||
| NR_121654.1:n.197-15376T>A (MYLK-AS1) | ||
| XM_011512860.1:c.5729A>T (MYLK) | XP_011511162.1:p.Glu1910Val | |
| XM_011512861.1:c.5528A>T (MYLK) | XP_011511163.1:p.Glu1843Val | |
| XM_011512862.1:c.5204A>T (MYLK) | XP_011511164.1:p.Glu1735Val | |
| NM_001321309.1:c.5204A>T (MYLK) | NP_001308238.1:p.Glu1735Val | |
| NM_053031.3:c.449A>T (MYLK) | NP_444259.1:p.Glu150Val | |
| NM_053032.3:c.452A>T (MYLK) | NP_444260.1:p.Glu151Val | |
| XM_011512860.3:c.5759A>T (MYLK) | XP_011511162.2:p.Glu1920Val | |
| XM_011512861.3:c.5558A>T (MYLK) | XP_011511163.2:p.Glu1853Val | |
| XM_017006469.2:c.2963A>T (MYLK) | XP_016861958.1:p.Glu988Val | |
| XM_017006470.2:c.2129A>T (MYLK) | XP_016861959.1:p.Glu710Val | |
| XM_017006471.2:c.2132A>T (MYLK) | XP_016861960.1:p.Glu711Val | |
| XM_017006472.2:c.452A>T (MYLK) | XP_016861961.1:p.Glu151Val | |
| XM_017006473.1:c.449A>T (MYLK) | XP_016861962.1:p.Glu150Val | |
| XM_024453532.1:c.5762A>T (MYLK) | XP_024309300.1:p.Glu1921Val | |
| XM_024453533.1:c.5732A>T (MYLK) | XP_024309301.1:p.Glu1911Val | |
| XM_024453534.1:c.5555A>T (MYLK) | XP_024309302.1:p.Glu1852Val | |
| XM_024453535.1:c.5525A>T (MYLK) | XP_024309303.1:p.Glu1842Val | |
| XM_024453536.1:c.5732A>T (MYLK) | XP_024309304.1:p.Glu1911Val | |
| XM_024453537.1:c.5732A>T (MYLK) | XP_024309305.1:p.Glu1911Val | |
| NM_001321309.2:c.5204A>T (MYLK) | NP_001308238.1:p.Glu1735Val | |
| NM_053025.4:c.5732A>T (MYLK) MANE Select | NP_444253.3:p.Glu1911Val | |
| NM_053026.4:c.5525A>T (MYLK) | NP_444254.3:p.Glu1842Val | |
| NM_053027.4:c.5579A>T (MYLK) | NP_444255.3:p.Glu1860Val | |
| NM_053028.4:c.5372A>T (MYLK) | NP_444256.3:p.Glu1791Val | |
| NM_053031.4:c.449A>T (MYLK) | NP_444259.1:p.Glu150Val | |
| NM_053032.4:c.452A>T (MYLK) | NP_444260.1:p.Glu151Val |