Canonical Allele Identifier: CA354231112
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123618732C>T , CM000665.2:g.123618732C>T GRCh38
NC_000003.11:g.123337579C>T , CM000665.1:g.123337579C>T GRCh37
NC_000003.10:g.124820269C>T NCBI36
NG_029111.1:g.270571G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5047G>A (MYLK) ENSP00000320622.6:p.Glu1683Lys
ENST00000508240.2:c.1807G>A (MYLK) ENSP00000422984.2:p.Glu603Lys
ENST00000578202.2:c.127G>A (MYLK) ENSP00000463691.2:p.Glu43Lys
ENST00000583087.6:c.127G>A (MYLK) ENSP00000462118.1:p.Glu43Lys
ENST00000684882.1:c.*14G>A (MYLK) ENSP00000510459.1:n.*14G>A
ENST00000685021.1:c.2641G>A (MYLK) ENSP00000508447.1:p.Glu881Lys
ENST00000685170.1:n.620G>A (MYLK)
ENST00000685259.1:c.2926G>A (MYLK)
ENST00000685665.1:c.124G>A (MYLK) ENSP00000509561.1:p.Glu42Lys
ENST00000685744.1:c.124G>A (MYLK) ENSP00000510047.1:p.Glu42Lys
ENST00000685907.1:n.3188G>A (MYLK)
ENST00000685953.1:c.1804G>A (MYLK) ENSP00000510593.1:p.Glu602Lys
ENST00000686039.1:c.2791G>A (MYLK)
ENST00000686245.1:c.2524G>A (MYLK) ENSP00000509313.1:p.Glu842Lys
ENST00000686281.1:n.699G>A (MYLK)
ENST00000686406.1:c.5404G>A (MYLK) ENSP00000509044.1:p.Glu1802Lys
ENST00000686458.1:n.1909G>A (MYLK)
ENST00000686761.1:c.5407G>A (MYLK) ENSP00000508758.1:p.Glu1803Lys
ENST00000687375.1:c.124G>A (MYLK) ENSP00000509867.1:p.Glu42Lys
ENST00000687434.1:c.*1623G>A (MYLK) ENSP00000509751.1:n.*1623G>A
ENST00000687709.1:n.3462G>A (MYLK)
ENST00000687848.1:c.5437G>A (MYLK) ENSP00000508761.1:p.Glu1813Lys
ENST00000688024.1:c.2638G>A (MYLK) ENSP00000509803.1:p.Glu880Lys
ENST00000688223.1:c.2437G>A (MYLK) ENSP00000508935.1:p.Glu813Lys
ENST00000689446.1:n.609G>A (MYLK)
ENST00000689868.1:n.5667G>A (MYLK)
ENST00000689918.1:n.1482G>A (MYLK)
ENST00000690086.1:n.1508G>A (MYLK)
ENST00000690167.1:n.3075G>A (MYLK)
ENST00000690457.1:c.4645G>A (MYLK) ENSP00000508777.1:p.Glu1549Lys
ENST00000690534.1:n.1928G>A (MYLK)
ENST00000690656.1:n.112G>A (MYLK)
ENST00000691367.1:n.103G>A (MYLK)
ENST00000691933.1:c.3031G>A (MYLK)
ENST00000692356.1:c.88+1475G>A (MYLK) ENSP00000509805.1:n.88+1475G>A
ENST00000693689.1:c.5200G>A (MYLK) ENSP00000510503.1:p.Glu1734Lys
ENST00000360304.8:c.5407G>A (MYLK) MANE Select ENSP00000353452.3:p.Glu1803Lys
ENST00000346322.9:c.5200G>A (MYLK) ENSP00000320622.5:p.Glu1734Lys
ENST00000354792.9:c.5200G>A (MYLK) ENSP00000346846.6:p.Glu1734Lys
ENST00000359169.5:c.5254G>A (MYLK) ENSP00000352088.1:p.Glu1752Lys
ENST00000360304.7:c.5407G>A (MYLK) ENSP00000353452.3:p.Glu1803Lys
ENST00000360772.7:c.5254G>A (MYLK) ENSP00000354004.3:p.Glu1752Lys
ENST00000418370.6:c.127G>A (MYLK) ENSP00000428967.1:p.Glu43Lys
ENST00000464489.5:c.*4986G>A (MYLK) ENSP00000417798.1:n.*4986G>A
ENST00000475616.5:c.5407G>A (MYLK) ENSP00000418335.1:p.Glu1803Lys
ENST00000515434.1:n.3911G>A (MYLK)
ENST00000578202.1:c.124G>A (MYLK) ENSP00000463691.1:p.Glu42Lys
ENST00000583087.5:c.127G>A (MYLK) ENSP00000462118.1:p.Glu43Lys
NM_053025.3:c.5407G>A (MYLK) NP_444253.3:p.Glu1803Lys
NM_053026.3:c.5200G>A (MYLK) NP_444254.3:p.Glu1734Lys
NM_053027.3:c.5254G>A (MYLK) NP_444255.3:p.Glu1752Lys
NM_053028.3:c.5047G>A (MYLK) NP_444256.3:p.Glu1683Lys
NM_053031.2:c.124G>A (MYLK) NP_444259.1:p.Glu42Lys
NM_053032.2:c.127G>A (MYLK) NP_444260.1:p.Glu43Lys
NR_038266.2:n.290-10762C>T (MYLK-AS1)
NR_121654.1:n.197-10762C>T (MYLK-AS1)
XM_011512860.1:c.5404G>A (MYLK) XP_011511162.1:p.Glu1802Lys
XM_011512861.1:c.5203G>A (MYLK) XP_011511163.1:p.Glu1735Lys
XM_011512862.1:c.4879G>A (MYLK) XP_011511164.1:p.Glu1627Lys
NM_001321309.1:c.4879G>A (MYLK) NP_001308238.1:p.Glu1627Lys
NM_053031.3:c.124G>A (MYLK) NP_444259.1:p.Glu42Lys
NM_053032.3:c.127G>A (MYLK) NP_444260.1:p.Glu43Lys
XM_011512860.3:c.5434G>A (MYLK) XP_011511162.2:p.Glu1812Lys
XM_011512861.3:c.5233G>A (MYLK) XP_011511163.2:p.Glu1745Lys
XM_017006469.2:c.2638G>A (MYLK) XP_016861958.1:p.Glu880Lys
XM_017006470.2:c.1804G>A (MYLK) XP_016861959.1:p.Glu602Lys
XM_017006471.2:c.1807G>A (MYLK) XP_016861960.1:p.Glu603Lys
XM_017006472.2:c.127G>A (MYLK) XP_016861961.1:p.Glu43Lys
XM_017006473.1:c.124G>A (MYLK) XP_016861962.1:p.Glu42Lys
XM_024453532.1:c.5437G>A (MYLK) XP_024309300.1:p.Glu1813Lys
XM_024453533.1:c.5407G>A (MYLK) XP_024309301.1:p.Glu1803Lys
XM_024453534.1:c.5230G>A (MYLK) XP_024309302.1:p.Glu1744Lys
XM_024453535.1:c.5200G>A (MYLK) XP_024309303.1:p.Glu1734Lys
XM_024453536.1:c.5407G>A (MYLK) XP_024309304.1:p.Glu1803Lys
XM_024453537.1:c.5407G>A (MYLK) XP_024309305.1:p.Glu1803Lys
NM_001321309.2:c.4879G>A (MYLK) NP_001308238.1:p.Glu1627Lys
NM_053025.4:c.5407G>A (MYLK) MANE Select NP_444253.3:p.Glu1803Lys
NM_053026.4:c.5200G>A (MYLK) NP_444254.3:p.Glu1734Lys
NM_053027.4:c.5254G>A (MYLK) NP_444255.3:p.Glu1752Lys
NM_053028.4:c.5047G>A (MYLK) NP_444256.3:p.Glu1683Lys
NM_053031.4:c.124G>A (MYLK) NP_444259.1:p.Glu42Lys
NM_053032.4:c.127G>A (MYLK) NP_444260.1:p.Glu43Lys