Linked Data
ClinVar Variation Id:
222741
dbSNP Id:
rs140636141
ExAC:
3:123337539 C / T
gnomAD v2:
3-123337539-C-T
gnomAD v3:
3-123618692-C-T
gnomAD v4:
3-123618692-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123618692C>T , CM000665.2:g.123618692C>T | GRCh38 |
| NC_000003.11:g.123337539C>T , CM000665.1:g.123337539C>T | GRCh37 |
| NC_000003.10:g.124820229C>T | NCBI36 |
| NG_029111.1:g.270611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.5087G>A (MYLK) | ENSP00000320622.6:p.Arg1696His | |
| ENST00000508240.2:c.1847G>A (MYLK) | ENSP00000422984.2:p.Arg616His | |
| ENST00000578202.2:c.167G>A (MYLK) | ENSP00000463691.2:p.Arg56His | |
| ENST00000583087.6:c.167G>A (MYLK) | ENSP00000462118.1:p.Arg56His | |
| ENST00000684882.1:c.*54G>A (MYLK) | ENSP00000510459.1:n.*54G>A | |
| ENST00000685021.1:c.2681G>A (MYLK) | ENSP00000508447.1:p.Arg894His | |
| ENST00000685170.1:n.660G>A (MYLK) | ||
| ENST00000685259.1:c.2966G>A (MYLK) | ||
| ENST00000685665.1:c.164G>A (MYLK) | ENSP00000509561.1:p.Arg55His | |
| ENST00000685744.1:c.164G>A (MYLK) | ENSP00000510047.1:p.Arg55His | |
| ENST00000685907.1:n.3228G>A (MYLK) | ||
| ENST00000685953.1:c.1844G>A (MYLK) | ENSP00000510593.1:p.Arg615His | |
| ENST00000686039.1:c.2831G>A (MYLK) | ||
| ENST00000686245.1:c.2564G>A (MYLK) | ENSP00000509313.1:p.Arg855His | |
| ENST00000686281.1:n.739G>A (MYLK) | ||
| ENST00000686406.1:c.5444G>A (MYLK) | ENSP00000509044.1:p.Arg1815His | |
| ENST00000686458.1:n.1949G>A (MYLK) | ||
| ENST00000686761.1:c.5447G>A (MYLK) | ENSP00000508758.1:p.Arg1816His | |
| ENST00000687375.1:c.164G>A (MYLK) | ENSP00000509867.1:p.Arg55His | |
| ENST00000687434.1:c.*1663G>A (MYLK) | ENSP00000509751.1:n.*1663G>A | |
| ENST00000687709.1:n.3502G>A (MYLK) | ||
| ENST00000687848.1:c.5477G>A (MYLK) | ENSP00000508761.1:p.Arg1826His | |
| ENST00000688024.1:c.2678G>A (MYLK) | ENSP00000509803.1:p.Arg893His | |
| ENST00000688223.1:c.2477G>A (MYLK) | ENSP00000508935.1:p.Arg826His | |
| ENST00000689446.1:n.649G>A (MYLK) | ||
| ENST00000689868.1:n.5707G>A (MYLK) | ||
| ENST00000689918.1:n.1522G>A (MYLK) | ||
| ENST00000690086.1:n.1548G>A (MYLK) | ||
| ENST00000690167.1:n.3115G>A (MYLK) | ||
| ENST00000690457.1:c.4685G>A (MYLK) | ENSP00000508777.1:p.Arg1562His | |
| ENST00000690534.1:n.1968G>A (MYLK) | ||
| ENST00000690656.1:n.152G>A (MYLK) | ||
| ENST00000691367.1:n.143G>A (MYLK) | ||
| ENST00000691933.1:c.3071G>A (MYLK) | ||
| ENST00000692356.1:c.88+1515G>A (MYLK) | ENSP00000509805.1:n.88+1515G>A | |
| ENST00000693689.1:c.5240G>A (MYLK) | ENSP00000510503.1:p.Arg1747His | |
| ENST00000360304.8:c.5447G>A (MYLK) MANE Select | ENSP00000353452.3:p.Arg1816His | |
| ENST00000346322.9:c.5240G>A (MYLK) | ENSP00000320622.5:p.Arg1747His | |
| ENST00000354792.9:c.5240G>A (MYLK) | ENSP00000346846.6:p.Arg1747His | |
| ENST00000359169.5:c.5294G>A (MYLK) | ENSP00000352088.1:p.Arg1765His | |
| ENST00000360304.7:c.5447G>A (MYLK) | ENSP00000353452.3:p.Arg1816His | |
| ENST00000360772.7:c.5294G>A (MYLK) | ENSP00000354004.3:p.Arg1765His | |
| ENST00000418370.6:c.167G>A (MYLK) | ENSP00000428967.1:p.Arg56His | |
| ENST00000464489.5:c.*5026G>A (MYLK) | ENSP00000417798.1:n.*5026G>A | |
| ENST00000475616.5:c.5447G>A (MYLK) | ENSP00000418335.1:p.Arg1816His | |
| ENST00000515434.1:n.3951G>A (MYLK) | ||
| ENST00000578202.1:c.164G>A (MYLK) | ENSP00000463691.1:p.Arg55His | |
| ENST00000583087.5:c.167G>A (MYLK) | ENSP00000462118.1:p.Arg56His | |
| NM_053025.3:c.5447G>A (MYLK) | NP_444253.3:p.Arg1816His | |
| NM_053026.3:c.5240G>A (MYLK) | NP_444254.3:p.Arg1747His | |
| NM_053027.3:c.5294G>A (MYLK) | NP_444255.3:p.Arg1765His | |
| NM_053028.3:c.5087G>A (MYLK) | NP_444256.3:p.Arg1696His | |
| NM_053031.2:c.164G>A (MYLK) | NP_444259.1:p.Arg55His | |
| NM_053032.2:c.167G>A (MYLK) | NP_444260.1:p.Arg56His | |
| NR_038266.2:n.290-10802C>T (MYLK-AS1) | ||
| NR_121654.1:n.197-10802C>T (MYLK-AS1) | ||
| XM_011512860.1:c.5444G>A (MYLK) | XP_011511162.1:p.Arg1815His | |
| XM_011512861.1:c.5243G>A (MYLK) | XP_011511163.1:p.Arg1748His | |
| XM_011512862.1:c.4919G>A (MYLK) | XP_011511164.1:p.Arg1640His | |
| NM_001321309.1:c.4919G>A (MYLK) | NP_001308238.1:p.Arg1640His | |
| NM_053031.3:c.164G>A (MYLK) | NP_444259.1:p.Arg55His | |
| NM_053032.3:c.167G>A (MYLK) | NP_444260.1:p.Arg56His | |
| XM_011512860.3:c.5474G>A (MYLK) | XP_011511162.2:p.Arg1825His | |
| XM_011512861.3:c.5273G>A (MYLK) | XP_011511163.2:p.Arg1758His | |
| XM_017006469.2:c.2678G>A (MYLK) | XP_016861958.1:p.Arg893His | |
| XM_017006470.2:c.1844G>A (MYLK) | XP_016861959.1:p.Arg615His | |
| XM_017006471.2:c.1847G>A (MYLK) | XP_016861960.1:p.Arg616His | |
| XM_017006472.2:c.167G>A (MYLK) | XP_016861961.1:p.Arg56His | |
| XM_017006473.1:c.164G>A (MYLK) | XP_016861962.1:p.Arg55His | |
| XM_024453532.1:c.5477G>A (MYLK) | XP_024309300.1:p.Arg1826His | |
| XM_024453533.1:c.5447G>A (MYLK) | XP_024309301.1:p.Arg1816His | |
| XM_024453534.1:c.5270G>A (MYLK) | XP_024309302.1:p.Arg1757His | |
| XM_024453535.1:c.5240G>A (MYLK) | XP_024309303.1:p.Arg1747His | |
| XM_024453536.1:c.5447G>A (MYLK) | XP_024309304.1:p.Arg1816His | |
| XM_024453537.1:c.5447G>A (MYLK) | XP_024309305.1:p.Arg1816His | |
| NM_001321309.2:c.4919G>A (MYLK) | NP_001308238.1:p.Arg1640His | |
| NM_053025.4:c.5447G>A (MYLK) MANE Select | NP_444253.3:p.Arg1816His | |
| NM_053026.4:c.5240G>A (MYLK) | NP_444254.3:p.Arg1747His | |
| NM_053027.4:c.5294G>A (MYLK) | NP_444255.3:p.Arg1765His | |
| NM_053028.4:c.5087G>A (MYLK) | NP_444256.3:p.Arg1696His | |
| NM_053031.4:c.164G>A (MYLK) | NP_444259.1:p.Arg55His | |
| NM_053032.4:c.167G>A (MYLK) | NP_444260.1:p.Arg56His |