Linked Data
ClinVar Variation Id:
226772
dbSNP Id:
rs141467675
ExAC:
3:123348356 C / T
gnomAD v2:
3-123348356-C-T
gnomAD v3:
3-123629509-C-T
gnomAD v4:
3-123629509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123629509C>T , CM000665.2:g.123629509C>T | GRCh38 |
| NC_000003.11:g.123348356C>T , CM000665.1:g.123348356C>T | GRCh37 |
| NC_000003.10:g.124831046C>T | NCBI36 |
| NG_029111.1:g.259794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.4755-2568G>A (MYLK) | ENSP00000320622.6:n.4755-2568G>A | |
| ENST00000508240.2:c.1479G>A (MYLK) | ENSP00000422984.2:p.Lys493= | |
| ENST00000684879.1:n.2711G>A (MYLK) | ||
| ENST00000685021.1:c.2313G>A (MYLK) | ENSP00000508447.1:p.Lys771= | |
| ENST00000685170.1:n.292G>A (MYLK) | ||
| ENST00000685259.1:c.2598G>A (MYLK) | ||
| ENST00000685907.1:n.2860G>A (MYLK) | ||
| ENST00000685953.1:c.1479G>A (MYLK) | ENSP00000510593.1:p.Lys493= | |
| ENST00000686039.1:c.2463G>A (MYLK) | ||
| ENST00000686245.1:c.2196G>A (MYLK) | ENSP00000509313.1:p.Lys732= | |
| ENST00000686281.1:n.371G>A (MYLK) | ||
| ENST00000686406.1:c.5079G>A (MYLK) | ENSP00000509044.1:p.Lys1693= | |
| ENST00000686458.1:n.1581G>A (MYLK) | ||
| ENST00000686761.1:c.5079G>A (MYLK) | ENSP00000508758.1:p.Lys1693= | |
| ENST00000686822.1:n.4973G>A (MYLK) | ||
| ENST00000687434.1:c.*1295G>A (MYLK) | ENSP00000509751.1:n.*1295G>A | |
| ENST00000687709.1:n.3134G>A (MYLK) | ||
| ENST00000687848.1:c.5109G>A (MYLK) | ENSP00000508761.1:p.Lys1703= | |
| ENST00000688024.1:c.2313G>A (MYLK) | ENSP00000509803.1:p.Lys771= | |
| ENST00000688223.1:c.2109G>A (MYLK) | ENSP00000508935.1:p.Lys703= | |
| ENST00000689446.1:n.284G>A (MYLK) | ||
| ENST00000689868.1:n.2807G>A (MYLK) | ||
| ENST00000689918.1:n.1154G>A (MYLK) | ||
| ENST00000690086.1:n.1180G>A (MYLK) | ||
| ENST00000690167.1:n.2750G>A (MYLK) | ||
| ENST00000690457.1:c.4317G>A (MYLK) | ENSP00000508777.1:p.Lys1439= | |
| ENST00000690534.1:n.1600G>A (MYLK) | ||
| ENST00000691933.1:c.2703G>A (MYLK) | ||
| ENST00000692811.1:n.529G>A (MYLK) | ||
| ENST00000693689.1:c.4872G>A (MYLK) | ENSP00000510503.1:p.Lys1624= | |
| ENST00000360304.8:c.5079G>A (MYLK) MANE Select | ENSP00000353452.3:p.Lys1693= | |
| ENST00000346322.9:c.4872G>A (MYLK) | ENSP00000320622.5:p.Lys1624= | |
| ENST00000354792.9:c.4872G>A (MYLK) | ENSP00000346846.6:p.Lys1624= | |
| ENST00000359169.5:c.4962-2568G>A (MYLK) | ENSP00000352088.1:n.4962-2568G>A | |
| ENST00000360304.7:c.5079G>A (MYLK) | ENSP00000353452.3:p.Lys1693= | |
| ENST00000360772.7:c.4962-2568G>A (MYLK) | ENSP00000354004.3:n.4962-2568G>A | |
| ENST00000464489.5:c.*4658G>A (MYLK) | ENSP00000417798.1:n.*4658G>A | |
| ENST00000475616.5:c.5079G>A (MYLK) | ENSP00000418335.1:p.Lys1693= | |
| NM_053025.3:c.5079G>A (MYLK) | NP_444253.3:p.Lys1693= | |
| NM_053026.3:c.4872G>A (MYLK) | NP_444254.3:p.Lys1624= | |
| NM_053027.3:c.4962-2568G>A (MYLK) | NP_444255.3:n.4962-2568G>A | |
| NM_053028.3:c.4755-2568G>A (MYLK) | NP_444256.3:n.4755-2568G>A | |
| NR_038266.2:n.305C>T (MYLK-AS1) | ||
| NR_121654.1:n.212C>T (MYLK-AS1) | ||
| XM_011512860.1:c.5079G>A (MYLK) | XP_011511162.1:p.Lys1693= | |
| XM_011512861.1:c.4875G>A (MYLK) | XP_011511163.1:p.Lys1625= | |
| XM_011512862.1:c.4551G>A (MYLK) | XP_011511164.1:p.Lys1517= | |
| NM_001321309.1:c.4551G>A (MYLK) | NP_001308238.1:p.Lys1517= | |
| XM_011512860.3:c.5109G>A (MYLK) | XP_011511162.2:p.Lys1703= | |
| XM_011512861.3:c.4905G>A (MYLK) | XP_011511163.2:p.Lys1635= | |
| XM_017006469.2:c.2313G>A (MYLK) | XP_016861958.1:p.Lys771= | |
| XM_017006470.2:c.1479G>A (MYLK) | XP_016861959.1:p.Lys493= | |
| XM_017006471.2:c.1479G>A (MYLK) | XP_016861960.1:p.Lys493= | |
| XM_024453532.1:c.5109G>A (MYLK) | XP_024309300.1:p.Lys1703= | |
| XM_024453533.1:c.5079G>A (MYLK) | XP_024309301.1:p.Lys1693= | |
| XM_024453534.1:c.4902G>A (MYLK) | XP_024309302.1:p.Lys1634= | |
| XM_024453535.1:c.4872G>A (MYLK) | XP_024309303.1:p.Lys1624= | |
| XM_024453536.1:c.5079G>A (MYLK) | XP_024309304.1:p.Lys1693= | |
| XM_024453537.1:c.5079G>A (MYLK) | XP_024309305.1:p.Lys1693= | |
| NM_001321309.2:c.4551G>A (MYLK) | NP_001308238.1:p.Lys1517= | |
| NM_053025.4:c.5079G>A (MYLK) MANE Select | NP_444253.3:p.Lys1693= | |
| NM_053026.4:c.4872G>A (MYLK) | NP_444254.3:p.Lys1624= | |
| NM_053027.4:c.4962-2568G>A (MYLK) | NP_444255.3:n.4962-2568G>A | |
| NM_053028.4:c.4755-2568G>A (MYLK) | NP_444256.3:n.4755-2568G>A |