Canonical Allele Identifier: CA072990
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123618691G>A , CM000665.2:g.123618691G>A GRCh38
NC_000003.11:g.123337538G>A , CM000665.1:g.123337538G>A GRCh37
NC_000003.10:g.124820228G>A NCBI36
NG_029111.1:g.270612C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5088C>T (MYLK) ENSP00000320622.6:p.Arg1696=
ENST00000508240.2:c.1848C>T (MYLK) ENSP00000422984.2:p.Arg616=
ENST00000578202.2:c.168C>T (MYLK) ENSP00000463691.2:p.Arg56=
ENST00000583087.6:c.168C>T (MYLK) ENSP00000462118.1:p.Arg56=
ENST00000684882.1:c.*55C>T (MYLK) ENSP00000510459.1:n.*55C>T
ENST00000685021.1:c.2682C>T (MYLK) ENSP00000508447.1:p.Arg894=
ENST00000685170.1:n.661C>T (MYLK)
ENST00000685259.1:c.2967C>T (MYLK)
ENST00000685665.1:c.165C>T (MYLK) ENSP00000509561.1:p.Arg55=
ENST00000685744.1:c.165C>T (MYLK) ENSP00000510047.1:p.Arg55=
ENST00000685907.1:n.3229C>T (MYLK)
ENST00000685953.1:c.1845C>T (MYLK) ENSP00000510593.1:p.Arg615=
ENST00000686039.1:c.2832C>T (MYLK)
ENST00000686245.1:c.2565C>T (MYLK) ENSP00000509313.1:p.Arg855=
ENST00000686281.1:n.740C>T (MYLK)
ENST00000686406.1:c.5445C>T (MYLK) ENSP00000509044.1:p.Arg1815=
ENST00000686458.1:n.1950C>T (MYLK)
ENST00000686761.1:c.5448C>T (MYLK) ENSP00000508758.1:p.Arg1816=
ENST00000687375.1:c.165C>T (MYLK) ENSP00000509867.1:p.Arg55=
ENST00000687434.1:c.*1664C>T (MYLK) ENSP00000509751.1:n.*1664C>T
ENST00000687709.1:n.3503C>T (MYLK)
ENST00000687848.1:c.5478C>T (MYLK) ENSP00000508761.1:p.Arg1826=
ENST00000688024.1:c.2679C>T (MYLK) ENSP00000509803.1:p.Arg893=
ENST00000688223.1:c.2478C>T (MYLK) ENSP00000508935.1:p.Arg826=
ENST00000689446.1:n.650C>T (MYLK)
ENST00000689868.1:n.5708C>T (MYLK)
ENST00000689918.1:n.1523C>T (MYLK)
ENST00000690086.1:n.1549C>T (MYLK)
ENST00000690167.1:n.3116C>T (MYLK)
ENST00000690457.1:c.4686C>T (MYLK) ENSP00000508777.1:p.Arg1562=
ENST00000690534.1:n.1969C>T (MYLK)
ENST00000690656.1:n.153C>T (MYLK)
ENST00000691367.1:n.144C>T (MYLK)
ENST00000691933.1:c.3072C>T (MYLK)
ENST00000692356.1:c.88+1516C>T (MYLK) ENSP00000509805.1:n.88+1516C>T
ENST00000693689.1:c.5241C>T (MYLK) ENSP00000510503.1:p.Arg1747=
ENST00000360304.8:c.5448C>T (MYLK) MANE Select ENSP00000353452.3:p.Arg1816=
ENST00000346322.9:c.5241C>T (MYLK) ENSP00000320622.5:p.Arg1747=
ENST00000354792.9:c.5241C>T (MYLK) ENSP00000346846.6:p.Arg1747=
ENST00000359169.5:c.5295C>T (MYLK) ENSP00000352088.1:p.Arg1765=
ENST00000360304.7:c.5448C>T (MYLK) ENSP00000353452.3:p.Arg1816=
ENST00000360772.7:c.5295C>T (MYLK) ENSP00000354004.3:p.Arg1765=
ENST00000418370.6:c.168C>T (MYLK) ENSP00000428967.1:p.Arg56=
ENST00000464489.5:c.*5027C>T (MYLK) ENSP00000417798.1:n.*5027C>T
ENST00000475616.5:c.5448C>T (MYLK) ENSP00000418335.1:p.Arg1816=
ENST00000515434.1:n.3952C>T (MYLK)
ENST00000578202.1:c.165C>T (MYLK) ENSP00000463691.1:p.Arg55=
ENST00000583087.5:c.168C>T (MYLK) ENSP00000462118.1:p.Arg56=
NM_053025.3:c.5448C>T (MYLK) NP_444253.3:p.Arg1816=
NM_053026.3:c.5241C>T (MYLK) NP_444254.3:p.Arg1747=
NM_053027.3:c.5295C>T (MYLK) NP_444255.3:p.Arg1765=
NM_053028.3:c.5088C>T (MYLK) NP_444256.3:p.Arg1696=
NM_053031.2:c.165C>T (MYLK) NP_444259.1:p.Arg55=
NM_053032.2:c.168C>T (MYLK) NP_444260.1:p.Arg56=
NR_038266.2:n.290-10803G>A (MYLK-AS1)
NR_121654.1:n.197-10803G>A (MYLK-AS1)
XM_011512860.1:c.5445C>T (MYLK) XP_011511162.1:p.Arg1815=
XM_011512861.1:c.5244C>T (MYLK) XP_011511163.1:p.Arg1748=
XM_011512862.1:c.4920C>T (MYLK) XP_011511164.1:p.Arg1640=
NM_001321309.1:c.4920C>T (MYLK) NP_001308238.1:p.Arg1640=
NM_053031.3:c.165C>T (MYLK) NP_444259.1:p.Arg55=
NM_053032.3:c.168C>T (MYLK) NP_444260.1:p.Arg56=
XM_011512860.3:c.5475C>T (MYLK) XP_011511162.2:p.Arg1825=
XM_011512861.3:c.5274C>T (MYLK) XP_011511163.2:p.Arg1758=
XM_017006469.2:c.2679C>T (MYLK) XP_016861958.1:p.Arg893=
XM_017006470.2:c.1845C>T (MYLK) XP_016861959.1:p.Arg615=
XM_017006471.2:c.1848C>T (MYLK) XP_016861960.1:p.Arg616=
XM_017006472.2:c.168C>T (MYLK) XP_016861961.1:p.Arg56=
XM_017006473.1:c.165C>T (MYLK) XP_016861962.1:p.Arg55=
XM_024453532.1:c.5478C>T (MYLK) XP_024309300.1:p.Arg1826=
XM_024453533.1:c.5448C>T (MYLK) XP_024309301.1:p.Arg1816=
XM_024453534.1:c.5271C>T (MYLK) XP_024309302.1:p.Arg1757=
XM_024453535.1:c.5241C>T (MYLK) XP_024309303.1:p.Arg1747=
XM_024453536.1:c.5448C>T (MYLK) XP_024309304.1:p.Arg1816=
XM_024453537.1:c.5448C>T (MYLK) XP_024309305.1:p.Arg1816=
NM_001321309.2:c.4920C>T (MYLK) NP_001308238.1:p.Arg1640=
NM_053025.4:c.5448C>T (MYLK) MANE Select NP_444253.3:p.Arg1816=
NM_053026.4:c.5241C>T (MYLK) NP_444254.3:p.Arg1747=
NM_053027.4:c.5295C>T (MYLK) NP_444255.3:p.Arg1765=
NM_053028.4:c.5088C>T (MYLK) NP_444256.3:p.Arg1696=
NM_053031.4:c.165C>T (MYLK) NP_444259.1:p.Arg55=
NM_053032.4:c.168C>T (MYLK) NP_444260.1:p.Arg56=