Linked Data
ClinVar Variation Id:
252775
dbSNP Id:
rs147187907
ExAC:
3:123337509 G / A
gnomAD v2:
3-123337509-G-A
gnomAD v3:
3-123618662-G-A
gnomAD v4:
3-123618662-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123618662G>A , CM000665.2:g.123618662G>A | GRCh38 |
| NC_000003.11:g.123337509G>A , CM000665.1:g.123337509G>A | GRCh37 |
| NC_000003.10:g.124820199G>A | NCBI36 |
| NG_029111.1:g.270641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.5117C>T (MYLK) | ENSP00000320622.6:p.Ala1706Val | |
| ENST00000508240.2:c.1877C>T (MYLK) | ENSP00000422984.2:p.Ala626Val | |
| ENST00000578202.2:c.197C>T (MYLK) | ENSP00000463691.2:p.Ala66Val | |
| ENST00000583087.6:c.197C>T (MYLK) | ENSP00000462118.1:p.Ala66Val | |
| ENST00000684882.1:c.*84C>T (MYLK) | ENSP00000510459.1:n.*84C>T | |
| ENST00000685021.1:c.2711C>T (MYLK) | ENSP00000508447.1:p.Ala904Val | |
| ENST00000685170.1:n.690C>T (MYLK) | ||
| ENST00000685259.1:c.2996C>T (MYLK) | ||
| ENST00000685665.1:c.194C>T (MYLK) | ENSP00000509561.1:p.Ala65Val | |
| ENST00000685744.1:c.194C>T (MYLK) | ENSP00000510047.1:p.Ala65Val | |
| ENST00000685907.1:n.3258C>T (MYLK) | ||
| ENST00000685953.1:c.1874C>T (MYLK) | ENSP00000510593.1:p.Ala625Val | |
| ENST00000686039.1:c.2861C>T (MYLK) | ||
| ENST00000686245.1:c.2594C>T (MYLK) | ENSP00000509313.1:p.Ala865Val | |
| ENST00000686281.1:n.769C>T (MYLK) | ||
| ENST00000686406.1:c.5474C>T (MYLK) | ENSP00000509044.1:p.Ala1825Val | |
| ENST00000686458.1:n.1979C>T (MYLK) | ||
| ENST00000686761.1:c.5477C>T (MYLK) | ENSP00000508758.1:p.Ala1826Val | |
| ENST00000687375.1:c.194C>T (MYLK) | ENSP00000509867.1:p.Ala65Val | |
| ENST00000687434.1:c.*1693C>T (MYLK) | ENSP00000509751.1:n.*1693C>T | |
| ENST00000687709.1:n.3532C>T (MYLK) | ||
| ENST00000687848.1:c.5507C>T (MYLK) | ENSP00000508761.1:p.Ala1836Val | |
| ENST00000688024.1:c.2708C>T (MYLK) | ENSP00000509803.1:p.Ala903Val | |
| ENST00000688223.1:c.2507C>T (MYLK) | ENSP00000508935.1:p.Ala836Val | |
| ENST00000689446.1:n.679C>T (MYLK) | ||
| ENST00000689868.1:n.5737C>T (MYLK) | ||
| ENST00000689918.1:n.1552C>T (MYLK) | ||
| ENST00000690086.1:n.1578C>T (MYLK) | ||
| ENST00000690167.1:n.3145C>T (MYLK) | ||
| ENST00000690457.1:c.4715C>T (MYLK) | ENSP00000508777.1:p.Ala1572Val | |
| ENST00000690534.1:n.1998C>T (MYLK) | ||
| ENST00000690656.1:n.182C>T (MYLK) | ||
| ENST00000691367.1:n.173C>T (MYLK) | ||
| ENST00000691933.1:c.3101C>T (MYLK) | ||
| ENST00000692356.1:c.88+1545C>T (MYLK) | ENSP00000509805.1:n.88+1545C>T | |
| ENST00000693689.1:c.5270C>T (MYLK) | ENSP00000510503.1:p.Ala1757Val | |
| ENST00000360304.8:c.5477C>T (MYLK) MANE Select | ENSP00000353452.3:p.Ala1826Val | |
| ENST00000346322.9:c.5270C>T (MYLK) | ENSP00000320622.5:p.Ala1757Val | |
| ENST00000354792.9:c.5270C>T (MYLK) | ENSP00000346846.6:p.Ala1757Val | |
| ENST00000359169.5:c.5324C>T (MYLK) | ENSP00000352088.1:p.Ala1775Val | |
| ENST00000360304.7:c.5477C>T (MYLK) | ENSP00000353452.3:p.Ala1826Val | |
| ENST00000360772.7:c.5324C>T (MYLK) | ENSP00000354004.3:p.Ala1775Val | |
| ENST00000418370.6:c.197C>T (MYLK) | ENSP00000428967.1:p.Ala66Val | |
| ENST00000464489.5:c.*5056C>T (MYLK) | ENSP00000417798.1:n.*5056C>T | |
| ENST00000475616.5:c.5477C>T (MYLK) | ENSP00000418335.1:p.Ala1826Val | |
| ENST00000515434.1:n.3981C>T (MYLK) | ||
| ENST00000578202.1:c.194C>T (MYLK) | ENSP00000463691.1:p.Ala65Val | |
| ENST00000583087.5:c.197C>T (MYLK) | ENSP00000462118.1:p.Ala66Val | |
| NM_053025.3:c.5477C>T (MYLK) | NP_444253.3:p.Ala1826Val | |
| NM_053026.3:c.5270C>T (MYLK) | NP_444254.3:p.Ala1757Val | |
| NM_053027.3:c.5324C>T (MYLK) | NP_444255.3:p.Ala1775Val | |
| NM_053028.3:c.5117C>T (MYLK) | NP_444256.3:p.Ala1706Val | |
| NM_053031.2:c.194C>T (MYLK) | NP_444259.1:p.Ala65Val | |
| NM_053032.2:c.197C>T (MYLK) | NP_444260.1:p.Ala66Val | |
| NR_038266.2:n.290-10832G>A (MYLK-AS1) | ||
| NR_121654.1:n.197-10832G>A (MYLK-AS1) | ||
| XM_011512860.1:c.5474C>T (MYLK) | XP_011511162.1:p.Ala1825Val | |
| XM_011512861.1:c.5273C>T (MYLK) | XP_011511163.1:p.Ala1758Val | |
| XM_011512862.1:c.4949C>T (MYLK) | XP_011511164.1:p.Ala1650Val | |
| NM_001321309.1:c.4949C>T (MYLK) | NP_001308238.1:p.Ala1650Val | |
| NM_053031.3:c.194C>T (MYLK) | NP_444259.1:p.Ala65Val | |
| NM_053032.3:c.197C>T (MYLK) | NP_444260.1:p.Ala66Val | |
| XM_011512860.3:c.5504C>T (MYLK) | XP_011511162.2:p.Ala1835Val | |
| XM_011512861.3:c.5303C>T (MYLK) | XP_011511163.2:p.Ala1768Val | |
| XM_017006469.2:c.2708C>T (MYLK) | XP_016861958.1:p.Ala903Val | |
| XM_017006470.2:c.1874C>T (MYLK) | XP_016861959.1:p.Ala625Val | |
| XM_017006471.2:c.1877C>T (MYLK) | XP_016861960.1:p.Ala626Val | |
| XM_017006472.2:c.197C>T (MYLK) | XP_016861961.1:p.Ala66Val | |
| XM_017006473.1:c.194C>T (MYLK) | XP_016861962.1:p.Ala65Val | |
| XM_024453532.1:c.5507C>T (MYLK) | XP_024309300.1:p.Ala1836Val | |
| XM_024453533.1:c.5477C>T (MYLK) | XP_024309301.1:p.Ala1826Val | |
| XM_024453534.1:c.5300C>T (MYLK) | XP_024309302.1:p.Ala1767Val | |
| XM_024453535.1:c.5270C>T (MYLK) | XP_024309303.1:p.Ala1757Val | |
| XM_024453536.1:c.5477C>T (MYLK) | XP_024309304.1:p.Ala1826Val | |
| XM_024453537.1:c.5477C>T (MYLK) | XP_024309305.1:p.Ala1826Val | |
| NM_001321309.2:c.4949C>T (MYLK) | NP_001308238.1:p.Ala1650Val | |
| NM_053025.4:c.5477C>T (MYLK) MANE Select | NP_444253.3:p.Ala1826Val | |
| NM_053026.4:c.5270C>T (MYLK) | NP_444254.3:p.Ala1757Val | |
| NM_053027.4:c.5324C>T (MYLK) | NP_444255.3:p.Ala1775Val | |
| NM_053028.4:c.5117C>T (MYLK) | NP_444256.3:p.Ala1706Val | |
| NM_053031.4:c.194C>T (MYLK) | NP_444259.1:p.Ala65Val | |
| NM_053032.4:c.197C>T (MYLK) | NP_444260.1:p.Ala66Val |