Canonical Allele Identifier: CA82937752
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123614335C>T , CM000665.2:g.123614335C>T GRCh38
NC_000003.11:g.123333182C>T , CM000665.1:g.123333182C>T GRCh37
NC_000003.10:g.124815872C>T NCBI36
NG_029111.1:g.274968G>A

Transcript Alleles

HGVS Amino-acid Change
NM_053025.4:c.5515G>A (MYLK) MANE Select NP_444253.3:p.Glu1839Lys
ENST00000360304.8:c.5515G>A (MYLK) MANE Select ENSP00000353452.3:p.Glu1839Lys
NM_001321309.1:c.4987G>A (MYLK) NP_001308238.1:p.Glu1663Lys
NM_001321309.2:c.4987G>A (MYLK) NP_001308238.1:p.Glu1663Lys
NM_053025.3:c.5515G>A (MYLK) NP_444253.3:p.Glu1839Lys
NM_053026.3:c.5308G>A (MYLK) NP_444254.3:p.Glu1770Lys
NM_053026.4:c.5308G>A (MYLK) NP_444254.3:p.Glu1770Lys
NM_053027.3:c.5362G>A (MYLK) NP_444255.3:p.Glu1788Lys
NM_053027.4:c.5362G>A (MYLK) NP_444255.3:p.Glu1788Lys
NM_053028.3:c.5155G>A (MYLK) NP_444256.3:p.Glu1719Lys
NM_053028.4:c.5155G>A (MYLK) NP_444256.3:p.Glu1719Lys
NM_053031.2:c.232G>A (MYLK) NP_444259.1:p.Glu78Lys
NM_053031.3:c.232G>A (MYLK) NP_444259.1:p.Glu78Lys
NM_053031.4:c.232G>A (MYLK) NP_444259.1:p.Glu78Lys
NM_053032.2:c.235G>A (MYLK) NP_444260.1:p.Glu79Lys
NM_053032.3:c.235G>A (MYLK) NP_444260.1:p.Glu79Lys
NM_053032.4:c.235G>A (MYLK) NP_444260.1:p.Glu79Lys
NR_038266.2:n.290-15159C>T (MYLK-AS1)
NR_121654.1:n.197-15159C>T (MYLK-AS1)
ENST00000346322.10:c.5155G>A (MYLK) ENSP00000320622.6:p.Glu1719Lys
ENST00000346322.9:c.5308G>A (MYLK) ENSP00000320622.5:p.Glu1770Lys
ENST00000354792.9:c.5308G>A (MYLK) ENSP00000346846.6:p.Glu1770Lys
ENST00000359169.5:c.5362G>A (MYLK) ENSP00000352088.1:p.Glu1788Lys
ENST00000360304.7:c.5515G>A (MYLK) ENSP00000353452.3:p.Glu1839Lys
ENST00000360772.7:c.5362G>A (MYLK) ENSP00000354004.3:p.Glu1788Lys
ENST00000418370.6:c.235G>A (MYLK) ENSP00000428967.1:p.Glu79Lys
ENST00000464489.5:c.*5094G>A (MYLK) ENSP00000417798.1:n.*5094G>A
ENST00000475616.5:c.5515G>A (MYLK) ENSP00000418335.1:p.Glu1839Lys
ENST00000508240.2:c.1915G>A (MYLK) ENSP00000422984.2:p.Glu639Lys
ENST00000578202.1:c.232G>A (MYLK) ENSP00000463691.1:p.Glu78Lys
ENST00000578202.2:c.*20G>A (MYLK) ENSP00000463691.2:n.*20G>A
ENST00000583087.5:c.235G>A (MYLK) ENSP00000462118.1:p.Glu79Lys
ENST00000583087.6:c.235G>A (MYLK) ENSP00000462118.1:p.Glu79Lys
ENST00000684882.1:c.*122G>A (MYLK) ENSP00000510459.1:n.*122G>A
ENST00000685021.1:c.2749G>A (MYLK) ENSP00000508447.1:p.Glu917Lys
ENST00000685170.1:n.728G>A (MYLK)
ENST00000685259.1:c.3034G>A (MYLK)
ENST00000685744.1:c.232G>A (MYLK) ENSP00000510047.1:p.Glu78Lys
ENST00000685907.1:n.3296G>A (MYLK)
ENST00000685953.1:c.1912G>A (MYLK) ENSP00000510593.1:p.Glu638Lys
ENST00000686039.1:c.2899G>A (MYLK)
ENST00000686245.1:c.2632G>A (MYLK) ENSP00000509313.1:p.Glu878Lys
ENST00000686281.1:n.807G>A (MYLK)
ENST00000686406.1:c.5512G>A (MYLK) ENSP00000509044.1:p.Glu1838Lys
ENST00000686458.1:n.2017G>A (MYLK)
ENST00000686761.1:c.5515G>A (MYLK) ENSP00000508758.1:p.Glu1839Lys
ENST00000687375.1:c.232G>A (MYLK) ENSP00000509867.1:p.Glu78Lys
ENST00000687434.1:c.*1731G>A (MYLK) ENSP00000509751.1:n.*1731G>A
ENST00000687709.1:n.3570G>A (MYLK)
ENST00000687848.1:c.5545G>A (MYLK) ENSP00000508761.1:p.Glu1849Lys
ENST00000688024.1:c.2746G>A (MYLK) ENSP00000509803.1:p.Glu916Lys
ENST00000688223.1:c.2545G>A (MYLK) ENSP00000508935.1:p.Glu849Lys
ENST00000689446.1:n.717G>A (MYLK)
ENST00000689868.1:n.5775G>A (MYLK)
ENST00000689918.1:n.1590G>A (MYLK)
ENST00000690086.1:n.1616G>A (MYLK)
ENST00000690167.1:n.3183G>A (MYLK)
ENST00000690457.1:c.4753G>A (MYLK) ENSP00000508777.1:p.Glu1585Lys
ENST00000690534.1:n.2036G>A (MYLK)
ENST00000690656.1:n.220G>A (MYLK)
ENST00000691367.1:n.211G>A (MYLK)
ENST00000691933.1:c.3139G>A (MYLK)
ENST00000692356.1:c.89-223G>A (MYLK) ENSP00000509805.1:n.89-223G>A
ENST00000692507.1:n.1319G>A (MYLK)
ENST00000693689.1:c.5308G>A (MYLK) ENSP00000510503.1:p.Glu1770Lys
XM_011512860.1:c.5512G>A (MYLK) XP_011511162.1:p.Glu1838Lys
XM_011512860.3:c.5542G>A (MYLK) XP_011511162.2:p.Glu1848Lys
XM_011512861.1:c.5311G>A (MYLK) XP_011511163.1:p.Glu1771Lys
XM_011512861.3:c.5341G>A (MYLK) XP_011511163.2:p.Glu1781Lys
XM_011512862.1:c.4987G>A (MYLK) XP_011511164.1:p.Glu1663Lys
XM_017006469.2:c.2746G>A (MYLK) XP_016861958.1:p.Glu916Lys
XM_017006470.2:c.1912G>A (MYLK) XP_016861959.1:p.Glu638Lys
XM_017006471.2:c.1915G>A (MYLK) XP_016861960.1:p.Glu639Lys
XM_017006472.2:c.235G>A (MYLK) XP_016861961.1:p.Glu79Lys
XM_017006473.1:c.232G>A (MYLK) XP_016861962.1:p.Glu78Lys
XM_024453532.1:c.5545G>A (MYLK) XP_024309300.1:p.Glu1849Lys
XM_024453533.1:c.5515G>A (MYLK) XP_024309301.1:p.Glu1839Lys
XM_024453534.1:c.5338G>A (MYLK) XP_024309302.1:p.Glu1780Lys
XM_024453535.1:c.5308G>A (MYLK) XP_024309303.1:p.Glu1770Lys
XM_024453536.1:c.5515G>A (MYLK) XP_024309304.1:p.Glu1839Lys
XM_024453537.1:c.5515G>A (MYLK) XP_024309305.1:p.Glu1839Lys