Canonical Allele Identifier: CA072900
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123618769T>C , CM000665.2:g.123618769T>C GRCh38
NC_000003.11:g.123337616T>C , CM000665.1:g.123337616T>C GRCh37
NC_000003.10:g.124820306T>C NCBI36
NG_029111.1:g.270534A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5010A>G (MYLK) ENSP00000320622.6:p.Glu1670=
ENST00000508240.2:c.1770A>G (MYLK) ENSP00000422984.2:p.Glu590=
ENST00000578202.2:c.90A>G (MYLK) ENSP00000463691.2:p.Glu30=
ENST00000583087.6:c.90A>G (MYLK) ENSP00000462118.1:p.Glu30=
ENST00000684882.1:c.121A>G (MYLK) ENSP00000510459.1:p.Arg41Gly
ENST00000685021.1:c.2604A>G (MYLK) ENSP00000508447.1:p.Glu868=
ENST00000685170.1:n.583A>G (MYLK)
ENST00000685259.1:c.2889A>G (MYLK)
ENST00000685665.1:c.89-2A>G (MYLK) ENSP00000509561.1:n.89-2A>G
ENST00000685744.1:c.89-2A>G (MYLK) ENSP00000510047.1:n.89-2A>G
ENST00000685907.1:n.3151A>G (MYLK)
ENST00000685953.1:c.1769-2A>G (MYLK) ENSP00000510593.1:n.1769-2A>G
ENST00000686039.1:c.2754A>G (MYLK)
ENST00000686245.1:c.2487A>G (MYLK) ENSP00000509313.1:p.Glu829=
ENST00000686281.1:n.662A>G (MYLK)
ENST00000686406.1:c.5369-2A>G (MYLK) ENSP00000509044.1:n.5369-2A>G
ENST00000686458.1:n.1872A>G (MYLK)
ENST00000686761.1:c.5370A>G (MYLK) ENSP00000508758.1:p.Glu1790=
ENST00000687375.1:c.89-2A>G (MYLK) ENSP00000509867.1:n.89-2A>G
ENST00000687434.1:c.*1586A>G (MYLK) ENSP00000509751.1:n.*1586A>G
ENST00000687709.1:n.3425A>G (MYLK)
ENST00000687848.1:c.5400A>G (MYLK) ENSP00000508761.1:p.Glu1800=
ENST00000688024.1:c.2603-2A>G (MYLK) ENSP00000509803.1:n.2603-2A>G
ENST00000688223.1:c.2400A>G (MYLK) ENSP00000508935.1:p.Glu800=
ENST00000689446.1:n.574-2A>G (MYLK)
ENST00000689868.1:n.5630A>G (MYLK)
ENST00000689918.1:n.1445A>G (MYLK)
ENST00000690086.1:n.1471A>G (MYLK)
ENST00000690167.1:n.3040-2A>G (MYLK)
ENST00000690457.1:c.4608A>G (MYLK) ENSP00000508777.1:p.Glu1536=
ENST00000690534.1:n.1891A>G (MYLK)
ENST00000690656.1:n.75A>G (MYLK)
ENST00000691367.1:n.68-2A>G (MYLK)
ENST00000691933.1:c.2994A>G (MYLK)
ENST00000692356.1:c.88+1438A>G (MYLK) ENSP00000509805.1:n.88+1438A>G
ENST00000693689.1:c.5163A>G (MYLK) ENSP00000510503.1:p.Glu1721=
ENST00000360304.8:c.5370A>G (MYLK) MANE Select ENSP00000353452.3:p.Glu1790=
ENST00000346322.9:c.5163A>G (MYLK) ENSP00000320622.5:p.Glu1721=
ENST00000354792.9:c.5163A>G (MYLK) ENSP00000346846.6:p.Glu1721=
ENST00000359169.5:c.5217A>G (MYLK) ENSP00000352088.1:p.Glu1739=
ENST00000360304.7:c.5370A>G (MYLK) ENSP00000353452.3:p.Glu1790=
ENST00000360772.7:c.5217A>G (MYLK) ENSP00000354004.3:p.Glu1739=
ENST00000418370.6:c.90A>G (MYLK) ENSP00000428967.1:p.Glu30=
ENST00000464489.5:c.*4949A>G (MYLK) ENSP00000417798.1:n.*4949A>G
ENST00000475616.5:c.5370A>G (MYLK) ENSP00000418335.1:p.Glu1790=
ENST00000515434.1:n.3874A>G (MYLK)
ENST00000578202.1:c.89-2A>G (MYLK) ENSP00000463691.1:n.89-2A>G
ENST00000583087.5:c.90A>G (MYLK) ENSP00000462118.1:p.Glu30=
NM_053025.3:c.5370A>G (MYLK) NP_444253.3:p.Glu1790=
NM_053026.3:c.5163A>G (MYLK) NP_444254.3:p.Glu1721=
NM_053027.3:c.5217A>G (MYLK) NP_444255.3:p.Glu1739=
NM_053028.3:c.5010A>G (MYLK) NP_444256.3:p.Glu1670=
NM_053031.2:c.89-2A>G (MYLK) NP_444259.1:n.89-2A>G
NM_053032.2:c.90A>G (MYLK) NP_444260.1:p.Glu30=
NR_038266.2:n.290-10725T>C (MYLK-AS1)
NR_121654.1:n.197-10725T>C (MYLK-AS1)
XM_011512860.1:c.5369-2A>G (MYLK) XP_011511162.1:n.5369-2A>G
XM_011512861.1:c.5166A>G (MYLK) XP_011511163.1:p.Glu1722=
XM_011512862.1:c.4842A>G (MYLK) XP_011511164.1:p.Glu1614=
NM_001321309.1:c.4842A>G (MYLK) NP_001308238.1:p.Glu1614=
NM_053031.3:c.89-2A>G (MYLK) NP_444259.1:n.89-2A>G
NM_053032.3:c.90A>G (MYLK) NP_444260.1:p.Glu30=
XM_011512860.3:c.5399-2A>G (MYLK) XP_011511162.2:n.5399-2A>G
XM_011512861.3:c.5196A>G (MYLK) XP_011511163.2:p.Glu1732=
XM_017006469.2:c.2603-2A>G (MYLK) XP_016861958.1:n.2603-2A>G
XM_017006470.2:c.1769-2A>G (MYLK) XP_016861959.1:n.1769-2A>G
XM_017006471.2:c.1770A>G (MYLK) XP_016861960.1:p.Glu590=
XM_017006472.2:c.90A>G (MYLK) XP_016861961.1:p.Glu30=
XM_017006473.1:c.89-2A>G (MYLK) XP_016861962.1:n.89-2A>G
XM_024453532.1:c.5400A>G (MYLK) XP_024309300.1:p.Glu1800=
XM_024453533.1:c.5370A>G (MYLK) XP_024309301.1:p.Glu1790=
XM_024453534.1:c.5193A>G (MYLK) XP_024309302.1:p.Glu1731=
XM_024453535.1:c.5163A>G (MYLK) XP_024309303.1:p.Glu1721=
XM_024453536.1:c.5370A>G (MYLK) XP_024309304.1:p.Glu1790=
XM_024453537.1:c.5370A>G (MYLK) XP_024309305.1:p.Glu1790=
NM_001321309.2:c.4842A>G (MYLK) NP_001308238.1:p.Glu1614=
NM_053025.4:c.5370A>G (MYLK) MANE Select NP_444253.3:p.Glu1790=
NM_053026.4:c.5163A>G (MYLK) NP_444254.3:p.Glu1721=
NM_053027.4:c.5217A>G (MYLK) NP_444255.3:p.Glu1739=
NM_053028.4:c.5010A>G (MYLK) NP_444256.3:p.Glu1670=
NM_053031.4:c.89-2A>G (MYLK) NP_444259.1:n.89-2A>G
NM_053032.4:c.90A>G (MYLK) NP_444260.1:p.Glu30=