Canonical Allele Identifier: CA354228509
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123614160A>C , CM000665.2:g.123614160A>C GRCh38
NC_000003.11:g.123333007A>C , CM000665.1:g.123333007A>C GRCh37
NC_000003.10:g.124815697A>C NCBI36
NG_029111.1:g.275143T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5330T>G (MYLK) ENSP00000320622.6:p.Leu1777Arg
ENST00000508240.2:c.2090T>G (MYLK) ENSP00000422984.2:p.Leu697Arg
ENST00000578202.2:c.*195T>G (MYLK) ENSP00000463691.2:n.*195T>G
ENST00000583087.6:c.410T>G (MYLK) ENSP00000462118.1:p.Leu137Arg
ENST00000685021.1:c.2924T>G (MYLK) ENSP00000508447.1:p.Leu975Arg
ENST00000685170.1:n.903T>G (MYLK)
ENST00000685259.1:c.3209T>G (MYLK)
ENST00000685744.1:c.407T>G (MYLK) ENSP00000510047.1:p.Leu136Arg
ENST00000685907.1:n.3471T>G (MYLK)
ENST00000685953.1:c.2087T>G (MYLK) ENSP00000510593.1:p.Leu696Arg
ENST00000686039.1:c.3074T>G (MYLK)
ENST00000686245.1:c.2807T>G (MYLK) ENSP00000509313.1:p.Leu936Arg
ENST00000686281.1:n.982T>G (MYLK)
ENST00000686406.1:c.5687T>G (MYLK) ENSP00000509044.1:p.Leu1896Arg
ENST00000686458.1:n.2192T>G (MYLK)
ENST00000686761.1:c.5690T>G (MYLK) ENSP00000508758.1:p.Leu1897Arg
ENST00000687375.1:c.407T>G (MYLK) ENSP00000509867.1:p.Leu136Arg
ENST00000687434.1:c.*1906T>G (MYLK) ENSP00000509751.1:n.*1906T>G
ENST00000687709.1:n.3745T>G (MYLK)
ENST00000687848.1:c.5720T>G (MYLK) ENSP00000508761.1:p.Leu1907Arg
ENST00000688024.1:c.2921T>G (MYLK) ENSP00000509803.1:p.Leu974Arg
ENST00000688223.1:c.2720T>G (MYLK) ENSP00000508935.1:p.Leu907Arg
ENST00000689446.1:n.892T>G (MYLK)
ENST00000689868.1:n.5950T>G (MYLK)
ENST00000689918.1:n.1765T>G (MYLK)
ENST00000690167.1:n.3358T>G (MYLK)
ENST00000690457.1:c.4928T>G (MYLK) ENSP00000508777.1:p.Leu1643Arg
ENST00000690656.1:n.395T>G (MYLK)
ENST00000691367.1:n.386T>G (MYLK)
ENST00000691933.1:c.3314T>G (MYLK)
ENST00000692356.1:c.89-48T>G (MYLK) ENSP00000509805.1:n.89-48T>G
ENST00000692507.1:n.1494T>G (MYLK)
ENST00000693689.1:c.5483T>G (MYLK) ENSP00000510503.1:p.Leu1828Arg
ENST00000360304.8:c.5690T>G (MYLK) MANE Select ENSP00000353452.3:p.Leu1897Arg
ENST00000346322.9:c.5483T>G (MYLK) ENSP00000320622.5:p.Leu1828Arg
ENST00000354792.9:c.5483T>G (MYLK) ENSP00000346846.6:p.Leu1828Arg
ENST00000359169.5:c.5537T>G (MYLK) ENSP00000352088.1:p.Leu1846Arg
ENST00000360304.7:c.5690T>G (MYLK) ENSP00000353452.3:p.Leu1897Arg
ENST00000360772.7:c.5537T>G (MYLK) ENSP00000354004.3:p.Leu1846Arg
ENST00000418370.6:c.410T>G (MYLK) ENSP00000428967.1:p.Leu137Arg
ENST00000464489.5:c.*5269T>G (MYLK) ENSP00000417798.1:n.*5269T>G
ENST00000475616.5:c.5690T>G (MYLK) ENSP00000418335.1:p.Leu1897Arg
ENST00000578202.1:c.407T>G (MYLK) ENSP00000463691.1:p.Leu136Arg
ENST00000583087.5:c.410T>G (MYLK) ENSP00000462118.1:p.Leu137Arg
NM_053025.3:c.5690T>G (MYLK) NP_444253.3:p.Leu1897Arg
NM_053026.3:c.5483T>G (MYLK) NP_444254.3:p.Leu1828Arg
NM_053027.3:c.5537T>G (MYLK) NP_444255.3:p.Leu1846Arg
NM_053028.3:c.5330T>G (MYLK) NP_444256.3:p.Leu1777Arg
NM_053031.2:c.407T>G (MYLK) NP_444259.1:p.Leu136Arg
NM_053032.2:c.410T>G (MYLK) NP_444260.1:p.Leu137Arg
NR_038266.2:n.290-15334A>C (MYLK-AS1)
NR_121654.1:n.197-15334A>C (MYLK-AS1)
XM_011512860.1:c.5687T>G (MYLK) XP_011511162.1:p.Leu1896Arg
XM_011512861.1:c.5486T>G (MYLK) XP_011511163.1:p.Leu1829Arg
XM_011512862.1:c.5162T>G (MYLK) XP_011511164.1:p.Leu1721Arg
NM_001321309.1:c.5162T>G (MYLK) NP_001308238.1:p.Leu1721Arg
NM_053031.3:c.407T>G (MYLK) NP_444259.1:p.Leu136Arg
NM_053032.3:c.410T>G (MYLK) NP_444260.1:p.Leu137Arg
XM_011512860.3:c.5717T>G (MYLK) XP_011511162.2:p.Leu1906Arg
XM_011512861.3:c.5516T>G (MYLK) XP_011511163.2:p.Leu1839Arg
XM_017006469.2:c.2921T>G (MYLK) XP_016861958.1:p.Leu974Arg
XM_017006470.2:c.2087T>G (MYLK) XP_016861959.1:p.Leu696Arg
XM_017006471.2:c.2090T>G (MYLK) XP_016861960.1:p.Leu697Arg
XM_017006472.2:c.410T>G (MYLK) XP_016861961.1:p.Leu137Arg
XM_017006473.1:c.407T>G (MYLK) XP_016861962.1:p.Leu136Arg
XM_024453532.1:c.5720T>G (MYLK) XP_024309300.1:p.Leu1907Arg
XM_024453533.1:c.5690T>G (MYLK) XP_024309301.1:p.Leu1897Arg
XM_024453534.1:c.5513T>G (MYLK) XP_024309302.1:p.Leu1838Arg
XM_024453535.1:c.5483T>G (MYLK) XP_024309303.1:p.Leu1828Arg
XM_024453536.1:c.5690T>G (MYLK) XP_024309304.1:p.Leu1897Arg
XM_024453537.1:c.5690T>G (MYLK) XP_024309305.1:p.Leu1897Arg
NM_001321309.2:c.5162T>G (MYLK) NP_001308238.1:p.Leu1721Arg
NM_053025.4:c.5690T>G (MYLK) MANE Select NP_444253.3:p.Leu1897Arg
NM_053026.4:c.5483T>G (MYLK) NP_444254.3:p.Leu1828Arg
NM_053027.4:c.5537T>G (MYLK) NP_444255.3:p.Leu1846Arg
NM_053028.4:c.5330T>G (MYLK) NP_444256.3:p.Leu1777Arg
NM_053031.4:c.407T>G (MYLK) NP_444259.1:p.Leu136Arg
NM_053032.4:c.410T>G (MYLK) NP_444260.1:p.Leu137Arg