Linked Data
ClinVar Variation Id:
520013
ClinVar RCV Id:
RCV002313454
dbSNP Id:
rs747326867
ExAC:
3:123333199 G / A
gnomAD v2:
3-123333199-G-A
gnomAD v3:
3-123614352-G-A
gnomAD v4:
3-123614352-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123614352G>A , CM000665.2:g.123614352G>A | GRCh38 |
| NC_000003.11:g.123333199G>A , CM000665.1:g.123333199G>A | GRCh37 |
| NC_000003.10:g.124815889G>A | NCBI36 |
| NG_029111.1:g.274951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.5141-3C>T (MYLK) | ENSP00000320622.6:n.5141-3C>T | |
| ENST00000508240.2:c.1901-3C>T (MYLK) | ENSP00000422984.2:n.1901-3C>T | |
| ENST00000578202.2:c.*3C>T (MYLK) | ENSP00000463691.2:n.*3C>T | |
| ENST00000583087.6:c.221-3C>T (MYLK) | ENSP00000462118.1:n.221-3C>T | |
| ENST00000684882.1:c.*108-3C>T (MYLK) | ENSP00000510459.1:n.*108-3C>T | |
| ENST00000685021.1:c.2735-3C>T (MYLK) | ENSP00000508447.1:n.2735-3C>T | |
| ENST00000685170.1:n.714-3C>T (MYLK) | ||
| ENST00000685259.1:c.3020-3C>T (MYLK) | ||
| ENST00000685744.1:c.218-3C>T (MYLK) | ENSP00000510047.1:n.218-3C>T | |
| ENST00000685907.1:n.3282-3C>T (MYLK) | ||
| ENST00000685953.1:c.1898-3C>T (MYLK) | ENSP00000510593.1:n.1898-3C>T | |
| ENST00000686039.1:c.2885-3C>T (MYLK) | ||
| ENST00000686245.1:c.2618-3C>T (MYLK) | ENSP00000509313.1:n.2618-3C>T | |
| ENST00000686281.1:n.793-3C>T (MYLK) | ||
| ENST00000686406.1:c.5498-3C>T (MYLK) | ENSP00000509044.1:n.5498-3C>T | |
| ENST00000686458.1:n.2003-3C>T (MYLK) | ||
| ENST00000686761.1:c.5501-3C>T (MYLK) | ENSP00000508758.1:n.5501-3C>T | |
| ENST00000687375.1:c.218-3C>T (MYLK) | ENSP00000509867.1:n.218-3C>T | |
| ENST00000687434.1:c.*1717-3C>T (MYLK) | ENSP00000509751.1:n.*1717-3C>T | |
| ENST00000687709.1:n.3556-3C>T (MYLK) | ||
| ENST00000687848.1:c.5531-3C>T (MYLK) | ENSP00000508761.1:n.5531-3C>T | |
| ENST00000688024.1:c.2732-3C>T (MYLK) | ENSP00000509803.1:n.2732-3C>T | |
| ENST00000688223.1:c.2531-3C>T (MYLK) | ENSP00000508935.1:n.2531-3C>T | |
| ENST00000689446.1:n.703-3C>T (MYLK) | ||
| ENST00000689868.1:n.5761-3C>T (MYLK) | ||
| ENST00000689918.1:n.1576-3C>T (MYLK) | ||
| ENST00000690086.1:n.1602-3C>T (MYLK) | ||
| ENST00000690167.1:n.3169-3C>T (MYLK) | ||
| ENST00000690457.1:c.4739-3C>T (MYLK) | ENSP00000508777.1:n.4739-3C>T | |
| ENST00000690534.1:n.2022-3C>T (MYLK) | ||
| ENST00000690656.1:n.206-3C>T (MYLK) | ||
| ENST00000691367.1:n.197-3C>T (MYLK) | ||
| ENST00000691933.1:c.3125-3C>T (MYLK) | ||
| ENST00000692356.1:c.89-240C>T (MYLK) | ENSP00000509805.1:n.89-240C>T | |
| ENST00000692507.1:n.1302C>T (MYLK) | ||
| ENST00000693689.1:c.5294-3C>T (MYLK) | ENSP00000510503.1:n.5294-3C>T | |
| ENST00000360304.8:c.5501-3C>T (MYLK) MANE Select | ENSP00000353452.3:n.5501-3C>T | |
| ENST00000346322.9:c.5294-3C>T (MYLK) | ENSP00000320622.5:n.5294-3C>T | |
| ENST00000354792.9:c.5294-3C>T (MYLK) | ENSP00000346846.6:n.5294-3C>T | |
| ENST00000359169.5:c.5348-3C>T (MYLK) | ENSP00000352088.1:n.5348-3C>T | |
| ENST00000360304.7:c.5501-3C>T (MYLK) | ENSP00000353452.3:n.5501-3C>T | |
| ENST00000360772.7:c.5348-3C>T (MYLK) | ENSP00000354004.3:n.5348-3C>T | |
| ENST00000418370.6:c.221-3C>T (MYLK) | ENSP00000428967.1:n.221-3C>T | |
| ENST00000464489.5:c.*5080-3C>T (MYLK) | ENSP00000417798.1:n.*5080-3C>T | |
| ENST00000475616.5:c.5501-3C>T (MYLK) | ENSP00000418335.1:n.5501-3C>T | |
| ENST00000578202.1:c.218-3C>T (MYLK) | ENSP00000463691.1:n.218-3C>T | |
| ENST00000583087.5:c.221-3C>T (MYLK) | ENSP00000462118.1:n.221-3C>T | |
| NM_053025.3:c.5501-3C>T (MYLK) | NP_444253.3:n.5501-3C>T | |
| NM_053026.3:c.5294-3C>T (MYLK) | NP_444254.3:n.5294-3C>T | |
| NM_053027.3:c.5348-3C>T (MYLK) | NP_444255.3:n.5348-3C>T | |
| NM_053028.3:c.5141-3C>T (MYLK) | NP_444256.3:n.5141-3C>T | |
| NM_053031.2:c.218-3C>T (MYLK) | NP_444259.1:n.218-3C>T | |
| NM_053032.2:c.221-3C>T (MYLK) | NP_444260.1:n.221-3C>T | |
| NR_038266.2:n.290-15142G>A (MYLK-AS1) | ||
| NR_121654.1:n.197-15142G>A (MYLK-AS1) | ||
| XM_011512860.1:c.5498-3C>T (MYLK) | XP_011511162.1:n.5498-3C>T | |
| XM_011512861.1:c.5297-3C>T (MYLK) | XP_011511163.1:n.5297-3C>T | |
| XM_011512862.1:c.4973-3C>T (MYLK) | XP_011511164.1:n.4973-3C>T | |
| NM_001321309.1:c.4973-3C>T (MYLK) | NP_001308238.1:n.4973-3C>T | |
| NM_053031.3:c.218-3C>T (MYLK) | NP_444259.1:n.218-3C>T | |
| NM_053032.3:c.221-3C>T (MYLK) | NP_444260.1:n.221-3C>T | |
| XM_011512860.3:c.5528-3C>T (MYLK) | XP_011511162.2:n.5528-3C>T | |
| XM_011512861.3:c.5327-3C>T (MYLK) | XP_011511163.2:n.5327-3C>T | |
| XM_017006469.2:c.2732-3C>T (MYLK) | XP_016861958.1:n.2732-3C>T | |
| XM_017006470.2:c.1898-3C>T (MYLK) | XP_016861959.1:n.1898-3C>T | |
| XM_017006471.2:c.1901-3C>T (MYLK) | XP_016861960.1:n.1901-3C>T | |
| XM_017006472.2:c.221-3C>T (MYLK) | XP_016861961.1:n.221-3C>T | |
| XM_017006473.1:c.218-3C>T (MYLK) | XP_016861962.1:n.218-3C>T | |
| XM_024453532.1:c.5531-3C>T (MYLK) | XP_024309300.1:n.5531-3C>T | |
| XM_024453533.1:c.5501-3C>T (MYLK) | XP_024309301.1:n.5501-3C>T | |
| XM_024453534.1:c.5324-3C>T (MYLK) | XP_024309302.1:n.5324-3C>T | |
| XM_024453535.1:c.5294-3C>T (MYLK) | XP_024309303.1:n.5294-3C>T | |
| XM_024453536.1:c.5501-3C>T (MYLK) | XP_024309304.1:n.5501-3C>T | |
| XM_024453537.1:c.5501-3C>T (MYLK) | XP_024309305.1:n.5501-3C>T | |
| NM_001321309.2:c.4973-3C>T (MYLK) | NP_001308238.1:n.4973-3C>T | |
| NM_053025.4:c.5501-3C>T (MYLK) MANE Select | NP_444253.3:n.5501-3C>T | |
| NM_053026.4:c.5294-3C>T (MYLK) | NP_444254.3:n.5294-3C>T | |
| NM_053027.4:c.5348-3C>T (MYLK) | NP_444255.3:n.5348-3C>T | |
| NM_053028.4:c.5141-3C>T (MYLK) | NP_444256.3:n.5141-3C>T | |
| NM_053031.4:c.218-3C>T (MYLK) | NP_444259.1:n.218-3C>T | |
| NM_053032.4:c.221-3C>T (MYLK) | NP_444260.1:n.221-3C>T |