Canonical Allele Identifier: CA435431471
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123614213C>T , CM000665.2:g.123614213C>T GRCh38
NC_000003.11:g.123333060C>T , CM000665.1:g.123333060C>T GRCh37
NC_000003.10:g.124815750C>T NCBI36
NG_029111.1:g.275090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5277G>A (MYLK) ENSP00000320622.6:p.Lys1759=
ENST00000508240.2:c.2037G>A (MYLK) ENSP00000422984.2:p.Lys679=
ENST00000578202.2:c.*142G>A (MYLK) ENSP00000463691.2:n.*142G>A
ENST00000583087.6:c.357G>A (MYLK) ENSP00000462118.1:p.Lys119=
ENST00000685021.1:c.2871G>A (MYLK) ENSP00000508447.1:p.Lys957=
ENST00000685170.1:n.850G>A (MYLK)
ENST00000685259.1:c.3156G>A (MYLK)
ENST00000685744.1:c.354G>A (MYLK) ENSP00000510047.1:p.Lys118=
ENST00000685907.1:n.3418G>A (MYLK)
ENST00000685953.1:c.2034G>A (MYLK) ENSP00000510593.1:p.Lys678=
ENST00000686039.1:c.3021G>A (MYLK)
ENST00000686245.1:c.2754G>A (MYLK) ENSP00000509313.1:p.Lys918=
ENST00000686281.1:n.929G>A (MYLK)
ENST00000686406.1:c.5634G>A (MYLK) ENSP00000509044.1:p.Lys1878=
ENST00000686458.1:n.2139G>A (MYLK)
ENST00000686761.1:c.5637G>A (MYLK) ENSP00000508758.1:p.Lys1879=
ENST00000687375.1:c.354G>A (MYLK) ENSP00000509867.1:p.Lys118=
ENST00000687434.1:c.*1853G>A (MYLK) ENSP00000509751.1:n.*1853G>A
ENST00000687709.1:n.3692G>A (MYLK)
ENST00000687848.1:c.5667G>A (MYLK) ENSP00000508761.1:p.Lys1889=
ENST00000688024.1:c.2868G>A (MYLK) ENSP00000509803.1:p.Lys956=
ENST00000688223.1:c.2667G>A (MYLK) ENSP00000508935.1:p.Lys889=
ENST00000689446.1:n.839G>A (MYLK)
ENST00000689868.1:n.5897G>A (MYLK)
ENST00000689918.1:n.1712G>A (MYLK)
ENST00000690167.1:n.3305G>A (MYLK)
ENST00000690457.1:c.4875G>A (MYLK) ENSP00000508777.1:p.Lys1625=
ENST00000690656.1:n.342G>A (MYLK)
ENST00000691367.1:n.333G>A (MYLK)
ENST00000691933.1:c.3261G>A (MYLK)
ENST00000692356.1:c.89-101G>A (MYLK) ENSP00000509805.1:n.89-101G>A
ENST00000692507.1:n.1441G>A (MYLK)
ENST00000693689.1:c.5430G>A (MYLK) ENSP00000510503.1:p.Lys1810=
ENST00000360304.8:c.5637G>A (MYLK) MANE Select ENSP00000353452.3:p.Lys1879=
ENST00000346322.9:c.5430G>A (MYLK) ENSP00000320622.5:p.Lys1810=
ENST00000354792.9:c.5430G>A (MYLK) ENSP00000346846.6:p.Lys1810=
ENST00000359169.5:c.5484G>A (MYLK) ENSP00000352088.1:p.Lys1828=
ENST00000360304.7:c.5637G>A (MYLK) ENSP00000353452.3:p.Lys1879=
ENST00000360772.7:c.5484G>A (MYLK) ENSP00000354004.3:p.Lys1828=
ENST00000418370.6:c.357G>A (MYLK) ENSP00000428967.1:p.Lys119=
ENST00000464489.5:c.*5216G>A (MYLK) ENSP00000417798.1:n.*5216G>A
ENST00000475616.5:c.5637G>A (MYLK) ENSP00000418335.1:p.Lys1879=
ENST00000578202.1:c.354G>A (MYLK) ENSP00000463691.1:p.Lys118=
ENST00000583087.5:c.357G>A (MYLK) ENSP00000462118.1:p.Lys119=
NM_053025.3:c.5637G>A (MYLK) NP_444253.3:p.Lys1879=
NM_053026.3:c.5430G>A (MYLK) NP_444254.3:p.Lys1810=
NM_053027.3:c.5484G>A (MYLK) NP_444255.3:p.Lys1828=
NM_053028.3:c.5277G>A (MYLK) NP_444256.3:p.Lys1759=
NM_053031.2:c.354G>A (MYLK) NP_444259.1:p.Lys118=
NM_053032.2:c.357G>A (MYLK) NP_444260.1:p.Lys119=
NR_038266.2:n.290-15281C>T (MYLK-AS1)
NR_121654.1:n.197-15281C>T (MYLK-AS1)
XM_011512860.1:c.5634G>A (MYLK) XP_011511162.1:p.Lys1878=
XM_011512861.1:c.5433G>A (MYLK) XP_011511163.1:p.Lys1811=
XM_011512862.1:c.5109G>A (MYLK) XP_011511164.1:p.Lys1703=
NM_001321309.1:c.5109G>A (MYLK) NP_001308238.1:p.Lys1703=
NM_053031.3:c.354G>A (MYLK) NP_444259.1:p.Lys118=
NM_053032.3:c.357G>A (MYLK) NP_444260.1:p.Lys119=
XM_011512860.3:c.5664G>A (MYLK) XP_011511162.2:p.Lys1888=
XM_011512861.3:c.5463G>A (MYLK) XP_011511163.2:p.Lys1821=
XM_017006469.2:c.2868G>A (MYLK) XP_016861958.1:p.Lys956=
XM_017006470.2:c.2034G>A (MYLK) XP_016861959.1:p.Lys678=
XM_017006471.2:c.2037G>A (MYLK) XP_016861960.1:p.Lys679=
XM_017006472.2:c.357G>A (MYLK) XP_016861961.1:p.Lys119=
XM_017006473.1:c.354G>A (MYLK) XP_016861962.1:p.Lys118=
XM_024453532.1:c.5667G>A (MYLK) XP_024309300.1:p.Lys1889=
XM_024453533.1:c.5637G>A (MYLK) XP_024309301.1:p.Lys1879=
XM_024453534.1:c.5460G>A (MYLK) XP_024309302.1:p.Lys1820=
XM_024453535.1:c.5430G>A (MYLK) XP_024309303.1:p.Lys1810=
XM_024453536.1:c.5637G>A (MYLK) XP_024309304.1:p.Lys1879=
XM_024453537.1:c.5637G>A (MYLK) XP_024309305.1:p.Lys1879=
NM_001321309.2:c.5109G>A (MYLK) NP_001308238.1:p.Lys1703=
NM_053025.4:c.5637G>A (MYLK) MANE Select NP_444253.3:p.Lys1879=
NM_053026.4:c.5430G>A (MYLK) NP_444254.3:p.Lys1810=
NM_053027.4:c.5484G>A (MYLK) NP_444255.3:p.Lys1828=
NM_053028.4:c.5277G>A (MYLK) NP_444256.3:p.Lys1759=
NM_053031.4:c.354G>A (MYLK) NP_444259.1:p.Lys118=
NM_053032.4:c.357G>A (MYLK) NP_444260.1:p.Lys119=