ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123614155C>T , CM000665.2:g.123614155C>T | GRCh38 |
| NC_000003.11:g.123333002C>T , CM000665.1:g.123333002C>T | GRCh37 |
| NC_000003.10:g.124815692C>T | NCBI36 |
| NG_029111.1:g.275148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.5335G>A (MYLK) | ENSP00000320622.6:p.Val1779Met | |
| ENST00000508240.2:c.2095G>A (MYLK) | ENSP00000422984.2:p.Val699Met | |
| ENST00000578202.2:c.*200G>A (MYLK) | ENSP00000463691.2:n.*200G>A | |
| ENST00000583087.6:c.415G>A (MYLK) | ENSP00000462118.1:p.Val139Met | |
| ENST00000685021.1:c.2929G>A (MYLK) | ENSP00000508447.1:p.Val977Met | |
| ENST00000685170.1:n.908G>A (MYLK) | ||
| ENST00000685259.1:c.3214G>A (MYLK) | ||
| ENST00000685744.1:c.412G>A (MYLK) | ENSP00000510047.1:p.Val138Met | |
| ENST00000685907.1:n.3476G>A (MYLK) | ||
| ENST00000685953.1:c.2092G>A (MYLK) | ENSP00000510593.1:p.Val698Met | |
| ENST00000686039.1:c.3079G>A (MYLK) | ||
| ENST00000686245.1:c.2812G>A (MYLK) | ENSP00000509313.1:p.Val938Met | |
| ENST00000686281.1:n.987G>A (MYLK) | ||
| ENST00000686406.1:c.5692G>A (MYLK) | ENSP00000509044.1:p.Val1898Met | |
| ENST00000686458.1:n.2197G>A (MYLK) | ||
| ENST00000686761.1:c.5695G>A (MYLK) | ENSP00000508758.1:p.Val1899Met | |
| ENST00000687375.1:c.412G>A (MYLK) | ENSP00000509867.1:p.Val138Met | |
| ENST00000687434.1:c.*1911G>A (MYLK) | ENSP00000509751.1:n.*1911G>A | |
| ENST00000687709.1:n.3750G>A (MYLK) | ||
| ENST00000687848.1:c.5725G>A (MYLK) | ENSP00000508761.1:p.Val1909Met | |
| ENST00000688024.1:c.2926G>A (MYLK) | ENSP00000509803.1:p.Val976Met | |
| ENST00000688223.1:c.2725G>A (MYLK) | ENSP00000508935.1:p.Val909Met | |
| ENST00000689446.1:n.897G>A (MYLK) | ||
| ENST00000689868.1:n.5955G>A (MYLK) | ||
| ENST00000689918.1:n.1770G>A (MYLK) | ||
| ENST00000690167.1:n.3363G>A (MYLK) | ||
| ENST00000690457.1:c.4933G>A (MYLK) | ENSP00000508777.1:p.Val1645Met | |
| ENST00000690656.1:n.400G>A (MYLK) | ||
| ENST00000691367.1:n.391G>A (MYLK) | ||
| ENST00000691933.1:c.3319G>A (MYLK) | ||
| ENST00000692356.1:c.89-43G>A (MYLK) | ENSP00000509805.1:n.89-43G>A | |
| ENST00000692507.1:n.1499G>A (MYLK) | ||
| ENST00000693689.1:c.5488G>A (MYLK) | ENSP00000510503.1:p.Val1830Met | |
| ENST00000360304.8:c.5695G>A (MYLK) MANE Select | ENSP00000353452.3:p.Val1899Met | |
| ENST00000346322.9:c.5488G>A (MYLK) | ENSP00000320622.5:p.Val1830Met | |
| ENST00000354792.9:c.5488G>A (MYLK) | ENSP00000346846.6:p.Val1830Met | |
| ENST00000359169.5:c.5542G>A (MYLK) | ENSP00000352088.1:p.Val1848Met | |
| ENST00000360304.7:c.5695G>A (MYLK) | ENSP00000353452.3:p.Val1899Met | |
| ENST00000360772.7:c.5542G>A (MYLK) | ENSP00000354004.3:p.Val1848Met | |
| ENST00000418370.6:c.415G>A (MYLK) | ENSP00000428967.1:p.Val139Met | |
| ENST00000464489.5:c.*5274G>A (MYLK) | ENSP00000417798.1:n.*5274G>A | |
| ENST00000475616.5:c.5695G>A (MYLK) | ENSP00000418335.1:p.Val1899Met | |
| ENST00000578202.1:c.412G>A (MYLK) | ENSP00000463691.1:p.Val138Met | |
| ENST00000583087.5:c.415G>A (MYLK) | ENSP00000462118.1:p.Val139Met | |
| NM_053025.3:c.5695G>A (MYLK) | NP_444253.3:p.Val1899Met | |
| NM_053026.3:c.5488G>A (MYLK) | NP_444254.3:p.Val1830Met | |
| NM_053027.3:c.5542G>A (MYLK) | NP_444255.3:p.Val1848Met | |
| NM_053028.3:c.5335G>A (MYLK) | NP_444256.3:p.Val1779Met | |
| NM_053031.2:c.412G>A (MYLK) | NP_444259.1:p.Val138Met | |
| NM_053032.2:c.415G>A (MYLK) | NP_444260.1:p.Val139Met | |
| NR_038266.2:n.290-15339C>T (MYLK-AS1) | ||
| NR_121654.1:n.197-15339C>T (MYLK-AS1) | ||
| XM_011512860.1:c.5692G>A (MYLK) | XP_011511162.1:p.Val1898Met | |
| XM_011512861.1:c.5491G>A (MYLK) | XP_011511163.1:p.Val1831Met | |
| XM_011512862.1:c.5167G>A (MYLK) | XP_011511164.1:p.Val1723Met | |
| NM_001321309.1:c.5167G>A (MYLK) | NP_001308238.1:p.Val1723Met | |
| NM_053031.3:c.412G>A (MYLK) | NP_444259.1:p.Val138Met | |
| NM_053032.3:c.415G>A (MYLK) | NP_444260.1:p.Val139Met | |
| XM_011512860.3:c.5722G>A (MYLK) | XP_011511162.2:p.Val1908Met | |
| XM_011512861.3:c.5521G>A (MYLK) | XP_011511163.2:p.Val1841Met | |
| XM_017006469.2:c.2926G>A (MYLK) | XP_016861958.1:p.Val976Met | |
| XM_017006470.2:c.2092G>A (MYLK) | XP_016861959.1:p.Val698Met | |
| XM_017006471.2:c.2095G>A (MYLK) | XP_016861960.1:p.Val699Met | |
| XM_017006472.2:c.415G>A (MYLK) | XP_016861961.1:p.Val139Met | |
| XM_017006473.1:c.412G>A (MYLK) | XP_016861962.1:p.Val138Met | |
| XM_024453532.1:c.5725G>A (MYLK) | XP_024309300.1:p.Val1909Met | |
| XM_024453533.1:c.5695G>A (MYLK) | XP_024309301.1:p.Val1899Met | |
| XM_024453534.1:c.5518G>A (MYLK) | XP_024309302.1:p.Val1840Met | |
| XM_024453535.1:c.5488G>A (MYLK) | XP_024309303.1:p.Val1830Met | |
| XM_024453536.1:c.5695G>A (MYLK) | XP_024309304.1:p.Val1899Met | |
| XM_024453537.1:c.5695G>A (MYLK) | XP_024309305.1:p.Val1899Met | |
| NM_001321309.2:c.5167G>A (MYLK) | NP_001308238.1:p.Val1723Met | |
| NM_053025.4:c.5695G>A (MYLK) MANE Select | NP_444253.3:p.Val1899Met | |
| NM_053026.4:c.5488G>A (MYLK) | NP_444254.3:p.Val1830Met | |
| NM_053027.4:c.5542G>A (MYLK) | NP_444255.3:p.Val1848Met | |
| NM_053028.4:c.5335G>A (MYLK) | NP_444256.3:p.Val1779Met | |
| NM_053031.4:c.412G>A (MYLK) | NP_444259.1:p.Val138Met | |
| NM_053032.4:c.415G>A (MYLK) | NP_444260.1:p.Val139Met |