Canonical Allele Identifier: CA354231209
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123618762A>C , CM000665.2:g.123618762A>C GRCh38
NC_000003.11:g.123337609A>C , CM000665.1:g.123337609A>C GRCh37
NC_000003.10:g.124820299A>C NCBI36
NG_029111.1:g.270541T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5017T>G (MYLK) ENSP00000320622.6:p.Ser1673Ala
ENST00000508240.2:c.1777T>G (MYLK) ENSP00000422984.2:p.Ser593Ala
ENST00000578202.2:c.97T>G (MYLK) ENSP00000463691.2:p.Ser33Ala
ENST00000583087.6:c.97T>G (MYLK) ENSP00000462118.1:p.Ser33Ala
ENST00000684882.1:c.128T>G (MYLK) ENSP00000510459.1:p.Val43Gly
ENST00000685021.1:c.2611T>G (MYLK) ENSP00000508447.1:p.Ser871Ala
ENST00000685170.1:n.590T>G (MYLK)
ENST00000685259.1:c.2896T>G (MYLK)
ENST00000685665.1:c.94T>G (MYLK) ENSP00000509561.1:p.Ser32Ala
ENST00000685744.1:c.94T>G (MYLK) ENSP00000510047.1:p.Ser32Ala
ENST00000685907.1:n.3158T>G (MYLK)
ENST00000685953.1:c.1774T>G (MYLK) ENSP00000510593.1:p.Ser592Ala
ENST00000686039.1:c.2761T>G (MYLK)
ENST00000686245.1:c.2494T>G (MYLK) ENSP00000509313.1:p.Ser832Ala
ENST00000686281.1:n.669T>G (MYLK)
ENST00000686406.1:c.5374T>G (MYLK) ENSP00000509044.1:p.Ser1792Ala
ENST00000686458.1:n.1879T>G (MYLK)
ENST00000686761.1:c.5377T>G (MYLK) ENSP00000508758.1:p.Ser1793Ala
ENST00000687375.1:c.94T>G (MYLK) ENSP00000509867.1:p.Ser32Ala
ENST00000687434.1:c.*1593T>G (MYLK) ENSP00000509751.1:n.*1593T>G
ENST00000687709.1:n.3432T>G (MYLK)
ENST00000687848.1:c.5407T>G (MYLK) ENSP00000508761.1:p.Ser1803Ala
ENST00000688024.1:c.2608T>G (MYLK) ENSP00000509803.1:p.Ser870Ala
ENST00000688223.1:c.2407T>G (MYLK) ENSP00000508935.1:p.Ser803Ala
ENST00000689446.1:n.579T>G (MYLK)
ENST00000689868.1:n.5637T>G (MYLK)
ENST00000689918.1:n.1452T>G (MYLK)
ENST00000690086.1:n.1478T>G (MYLK)
ENST00000690167.1:n.3045T>G (MYLK)
ENST00000690457.1:c.4615T>G (MYLK) ENSP00000508777.1:p.Ser1539Ala
ENST00000690534.1:n.1898T>G (MYLK)
ENST00000690656.1:n.82T>G (MYLK)
ENST00000691367.1:n.73T>G (MYLK)
ENST00000691933.1:c.3001T>G (MYLK)
ENST00000692356.1:c.88+1445T>G (MYLK) ENSP00000509805.1:n.88+1445T>G
ENST00000693689.1:c.5170T>G (MYLK) ENSP00000510503.1:p.Ser1724Ala
ENST00000360304.8:c.5377T>G (MYLK) MANE Select ENSP00000353452.3:p.Ser1793Ala
ENST00000346322.9:c.5170T>G (MYLK) ENSP00000320622.5:p.Ser1724Ala
ENST00000354792.9:c.5170T>G (MYLK) ENSP00000346846.6:p.Ser1724Ala
ENST00000359169.5:c.5224T>G (MYLK) ENSP00000352088.1:p.Ser1742Ala
ENST00000360304.7:c.5377T>G (MYLK) ENSP00000353452.3:p.Ser1793Ala
ENST00000360772.7:c.5224T>G (MYLK) ENSP00000354004.3:p.Ser1742Ala
ENST00000418370.6:c.97T>G (MYLK) ENSP00000428967.1:p.Ser33Ala
ENST00000464489.5:c.*4956T>G (MYLK) ENSP00000417798.1:n.*4956T>G
ENST00000475616.5:c.5377T>G (MYLK) ENSP00000418335.1:p.Ser1793Ala
ENST00000515434.1:n.3881T>G (MYLK)
ENST00000578202.1:c.94T>G (MYLK) ENSP00000463691.1:p.Ser32Ala
ENST00000583087.5:c.97T>G (MYLK) ENSP00000462118.1:p.Ser33Ala
NM_053025.3:c.5377T>G (MYLK) NP_444253.3:p.Ser1793Ala
NM_053026.3:c.5170T>G (MYLK) NP_444254.3:p.Ser1724Ala
NM_053027.3:c.5224T>G (MYLK) NP_444255.3:p.Ser1742Ala
NM_053028.3:c.5017T>G (MYLK) NP_444256.3:p.Ser1673Ala
NM_053031.2:c.94T>G (MYLK) NP_444259.1:p.Ser32Ala
NM_053032.2:c.97T>G (MYLK) NP_444260.1:p.Ser33Ala
NR_038266.2:n.290-10732A>C (MYLK-AS1)
NR_121654.1:n.197-10732A>C (MYLK-AS1)
XM_011512860.1:c.5374T>G (MYLK) XP_011511162.1:p.Ser1792Ala
XM_011512861.1:c.5173T>G (MYLK) XP_011511163.1:p.Ser1725Ala
XM_011512862.1:c.4849T>G (MYLK) XP_011511164.1:p.Ser1617Ala
NM_001321309.1:c.4849T>G (MYLK) NP_001308238.1:p.Ser1617Ala
NM_053031.3:c.94T>G (MYLK) NP_444259.1:p.Ser32Ala
NM_053032.3:c.97T>G (MYLK) NP_444260.1:p.Ser33Ala
XM_011512860.3:c.5404T>G (MYLK) XP_011511162.2:p.Ser1802Ala
XM_011512861.3:c.5203T>G (MYLK) XP_011511163.2:p.Ser1735Ala
XM_017006469.2:c.2608T>G (MYLK) XP_016861958.1:p.Ser870Ala
XM_017006470.2:c.1774T>G (MYLK) XP_016861959.1:p.Ser592Ala
XM_017006471.2:c.1777T>G (MYLK) XP_016861960.1:p.Ser593Ala
XM_017006472.2:c.97T>G (MYLK) XP_016861961.1:p.Ser33Ala
XM_017006473.1:c.94T>G (MYLK) XP_016861962.1:p.Ser32Ala
XM_024453532.1:c.5407T>G (MYLK) XP_024309300.1:p.Ser1803Ala
XM_024453533.1:c.5377T>G (MYLK) XP_024309301.1:p.Ser1793Ala
XM_024453534.1:c.5200T>G (MYLK) XP_024309302.1:p.Ser1734Ala
XM_024453535.1:c.5170T>G (MYLK) XP_024309303.1:p.Ser1724Ala
XM_024453536.1:c.5377T>G (MYLK) XP_024309304.1:p.Ser1793Ala
XM_024453537.1:c.5377T>G (MYLK) XP_024309305.1:p.Ser1793Ala
NM_001321309.2:c.4849T>G (MYLK) NP_001308238.1:p.Ser1617Ala
NM_053025.4:c.5377T>G (MYLK) MANE Select NP_444253.3:p.Ser1793Ala
NM_053026.4:c.5170T>G (MYLK) NP_444254.3:p.Ser1724Ala
NM_053027.4:c.5224T>G (MYLK) NP_444255.3:p.Ser1742Ala
NM_053028.4:c.5017T>G (MYLK) NP_444256.3:p.Ser1673Ala
NM_053031.4:c.94T>G (MYLK) NP_444259.1:p.Ser32Ala
NM_053032.4:c.97T>G (MYLK) NP_444260.1:p.Ser33Ala