Canonical Allele Identifier: CA435431525
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123614303G>A , CM000665.2:g.123614303G>A GRCh38
NC_000003.11:g.123333150G>A , CM000665.1:g.123333150G>A GRCh37
NC_000003.10:g.124815840G>A NCBI36
NG_029111.1:g.275000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5187C>T (MYLK) ENSP00000320622.6:p.Ile1729=
ENST00000508240.2:c.1947C>T (MYLK) ENSP00000422984.2:p.Ile649=
ENST00000578202.2:c.*52C>T (MYLK) ENSP00000463691.2:n.*52C>T
ENST00000583087.6:c.267C>T (MYLK) ENSP00000462118.1:p.Ile89=
ENST00000684882.1:c.*154C>T (MYLK) ENSP00000510459.1:n.*154C>T
ENST00000685021.1:c.2781C>T (MYLK) ENSP00000508447.1:p.Ile927=
ENST00000685170.1:n.760C>T (MYLK)
ENST00000685259.1:c.3066C>T (MYLK)
ENST00000685744.1:c.264C>T (MYLK) ENSP00000510047.1:p.Ile88=
ENST00000685907.1:n.3328C>T (MYLK)
ENST00000685953.1:c.1944C>T (MYLK) ENSP00000510593.1:p.Ile648=
ENST00000686039.1:c.2931C>T (MYLK)
ENST00000686245.1:c.2664C>T (MYLK) ENSP00000509313.1:p.Ile888=
ENST00000686281.1:n.839C>T (MYLK)
ENST00000686406.1:c.5544C>T (MYLK) ENSP00000509044.1:p.Ile1848=
ENST00000686458.1:n.2049C>T (MYLK)
ENST00000686761.1:c.5547C>T (MYLK) ENSP00000508758.1:p.Ile1849=
ENST00000687375.1:c.264C>T (MYLK) ENSP00000509867.1:p.Ile88=
ENST00000687434.1:c.*1763C>T (MYLK) ENSP00000509751.1:n.*1763C>T
ENST00000687709.1:n.3602C>T (MYLK)
ENST00000687848.1:c.5577C>T (MYLK) ENSP00000508761.1:p.Ile1859=
ENST00000688024.1:c.2778C>T (MYLK) ENSP00000509803.1:p.Ile926=
ENST00000688223.1:c.2577C>T (MYLK) ENSP00000508935.1:p.Ile859=
ENST00000689446.1:n.749C>T (MYLK)
ENST00000689868.1:n.5807C>T (MYLK)
ENST00000689918.1:n.1622C>T (MYLK)
ENST00000690086.1:n.1648C>T (MYLK)
ENST00000690167.1:n.3215C>T (MYLK)
ENST00000690457.1:c.4785C>T (MYLK) ENSP00000508777.1:p.Ile1595=
ENST00000690534.1:n.2068C>T (MYLK)
ENST00000690656.1:n.252C>T (MYLK)
ENST00000691367.1:n.243C>T (MYLK)
ENST00000691933.1:c.3171C>T (MYLK)
ENST00000692356.1:c.89-191C>T (MYLK) ENSP00000509805.1:n.89-191C>T
ENST00000692507.1:n.1351C>T (MYLK)
ENST00000693689.1:c.5340C>T (MYLK) ENSP00000510503.1:p.Ile1780=
ENST00000360304.8:c.5547C>T (MYLK) MANE Select ENSP00000353452.3:p.Ile1849=
ENST00000346322.9:c.5340C>T (MYLK) ENSP00000320622.5:p.Ile1780=
ENST00000354792.9:c.5340C>T (MYLK) ENSP00000346846.6:p.Ile1780=
ENST00000359169.5:c.5394C>T (MYLK) ENSP00000352088.1:p.Ile1798=
ENST00000360304.7:c.5547C>T (MYLK) ENSP00000353452.3:p.Ile1849=
ENST00000360772.7:c.5394C>T (MYLK) ENSP00000354004.3:p.Ile1798=
ENST00000418370.6:c.267C>T (MYLK) ENSP00000428967.1:p.Ile89=
ENST00000464489.5:c.*5126C>T (MYLK) ENSP00000417798.1:n.*5126C>T
ENST00000475616.5:c.5547C>T (MYLK) ENSP00000418335.1:p.Ile1849=
ENST00000578202.1:c.264C>T (MYLK) ENSP00000463691.1:p.Ile88=
ENST00000583087.5:c.267C>T (MYLK) ENSP00000462118.1:p.Ile89=
NM_053025.3:c.5547C>T (MYLK) NP_444253.3:p.Ile1849=
NM_053026.3:c.5340C>T (MYLK) NP_444254.3:p.Ile1780=
NM_053027.3:c.5394C>T (MYLK) NP_444255.3:p.Ile1798=
NM_053028.3:c.5187C>T (MYLK) NP_444256.3:p.Ile1729=
NM_053031.2:c.264C>T (MYLK) NP_444259.1:p.Ile88=
NM_053032.2:c.267C>T (MYLK) NP_444260.1:p.Ile89=
NR_038266.2:n.290-15191G>A (MYLK-AS1)
NR_121654.1:n.197-15191G>A (MYLK-AS1)
XM_011512860.1:c.5544C>T (MYLK) XP_011511162.1:p.Ile1848=
XM_011512861.1:c.5343C>T (MYLK) XP_011511163.1:p.Ile1781=
XM_011512862.1:c.5019C>T (MYLK) XP_011511164.1:p.Ile1673=
NM_001321309.1:c.5019C>T (MYLK) NP_001308238.1:p.Ile1673=
NM_053031.3:c.264C>T (MYLK) NP_444259.1:p.Ile88=
NM_053032.3:c.267C>T (MYLK) NP_444260.1:p.Ile89=
XM_011512860.3:c.5574C>T (MYLK) XP_011511162.2:p.Ile1858=
XM_011512861.3:c.5373C>T (MYLK) XP_011511163.2:p.Ile1791=
XM_017006469.2:c.2778C>T (MYLK) XP_016861958.1:p.Ile926=
XM_017006470.2:c.1944C>T (MYLK) XP_016861959.1:p.Ile648=
XM_017006471.2:c.1947C>T (MYLK) XP_016861960.1:p.Ile649=
XM_017006472.2:c.267C>T (MYLK) XP_016861961.1:p.Ile89=
XM_017006473.1:c.264C>T (MYLK) XP_016861962.1:p.Ile88=
XM_024453532.1:c.5577C>T (MYLK) XP_024309300.1:p.Ile1859=
XM_024453533.1:c.5547C>T (MYLK) XP_024309301.1:p.Ile1849=
XM_024453534.1:c.5370C>T (MYLK) XP_024309302.1:p.Ile1790=
XM_024453535.1:c.5340C>T (MYLK) XP_024309303.1:p.Ile1780=
XM_024453536.1:c.5547C>T (MYLK) XP_024309304.1:p.Ile1849=
XM_024453537.1:c.5547C>T (MYLK) XP_024309305.1:p.Ile1849=
NM_001321309.2:c.5019C>T (MYLK) NP_001308238.1:p.Ile1673=
NM_053025.4:c.5547C>T (MYLK) MANE Select NP_444253.3:p.Ile1849=
NM_053026.4:c.5340C>T (MYLK) NP_444254.3:p.Ile1780=
NM_053027.4:c.5394C>T (MYLK) NP_444255.3:p.Ile1798=
NM_053028.4:c.5187C>T (MYLK) NP_444256.3:p.Ile1729=
NM_053031.4:c.264C>T (MYLK) NP_444259.1:p.Ile88=
NM_053032.4:c.267C>T (MYLK) NP_444260.1:p.Ile89=