Canonical Allele Identifier: CA073034
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123618632A>G , CM000665.2:g.123618632A>G GRCh38
NC_000003.11:g.123337479A>G , CM000665.1:g.123337479A>G GRCh37
NC_000003.10:g.124820169A>G NCBI36
NG_029111.1:g.270671T>C

Transcript Alleles

HGVS Amino-acid Change
NM_053025.4:c.5500+7T>C (MYLK) MANE Select NP_444253.3:n.5500+7T>C
ENST00000360304.8:c.5500+7T>C (MYLK) MANE Select ENSP00000353452.3:n.5500+7T>C
NM_001321309.1:c.4972+7T>C (MYLK) NP_001308238.1:n.4972+7T>C
NM_001321309.2:c.4972+7T>C (MYLK) NP_001308238.1:n.4972+7T>C
NM_053025.3:c.5500+7T>C (MYLK) NP_444253.3:n.5500+7T>C
NM_053026.3:c.5293+7T>C (MYLK) NP_444254.3:n.5293+7T>C
NM_053026.4:c.5293+7T>C (MYLK) NP_444254.3:n.5293+7T>C
NM_053027.3:c.5347+7T>C (MYLK) NP_444255.3:n.5347+7T>C
NM_053027.4:c.5347+7T>C (MYLK) NP_444255.3:n.5347+7T>C
NM_053028.3:c.5140+7T>C (MYLK) NP_444256.3:n.5140+7T>C
NM_053028.4:c.5140+7T>C (MYLK) NP_444256.3:n.5140+7T>C
NM_053031.2:c.217+7T>C (MYLK) NP_444259.1:n.217+7T>C
NM_053031.3:c.217+7T>C (MYLK) NP_444259.1:n.217+7T>C
NM_053031.4:c.217+7T>C (MYLK) NP_444259.1:n.217+7T>C
NM_053032.2:c.220+7T>C (MYLK) NP_444260.1:n.220+7T>C
NM_053032.3:c.220+7T>C (MYLK) NP_444260.1:n.220+7T>C
NM_053032.4:c.220+7T>C (MYLK) NP_444260.1:n.220+7T>C
NR_038266.2:n.290-10862A>G (MYLK-AS1)
NR_121654.1:n.197-10862A>G (MYLK-AS1)
ENST00000346322.10:c.5140+7T>C (MYLK) ENSP00000320622.6:n.5140+7T>C
ENST00000346322.9:c.5293+7T>C (MYLK) ENSP00000320622.5:n.5293+7T>C
ENST00000354792.9:c.5293+7T>C (MYLK) ENSP00000346846.6:n.5293+7T>C
ENST00000359169.5:c.5347+7T>C (MYLK) ENSP00000352088.1:n.5347+7T>C
ENST00000360304.7:c.5500+7T>C (MYLK) ENSP00000353452.3:n.5500+7T>C
ENST00000360772.7:c.5347+7T>C (MYLK) ENSP00000354004.3:n.5347+7T>C
ENST00000418370.6:c.220+7T>C (MYLK) ENSP00000428967.1:n.220+7T>C
ENST00000464489.5:c.*5079+7T>C (MYLK) ENSP00000417798.1:n.*5079+7T>C
ENST00000475616.5:c.5500+7T>C (MYLK) ENSP00000418335.1:n.5500+7T>C
ENST00000508240.2:c.1900+7T>C (MYLK) ENSP00000422984.2:n.1900+7T>C
ENST00000515434.1:n.4011T>C (MYLK)
ENST00000578202.1:c.217+7T>C (MYLK) ENSP00000463691.1:n.217+7T>C
ENST00000578202.2:c.220+7T>C (MYLK) ENSP00000463691.2:n.220+7T>C
ENST00000583087.5:c.220+7T>C (MYLK) ENSP00000462118.1:n.220+7T>C
ENST00000583087.6:c.220+7T>C (MYLK) ENSP00000462118.1:n.220+7T>C
ENST00000684882.1:c.*107+7T>C (MYLK) ENSP00000510459.1:n.*107+7T>C
ENST00000685021.1:c.2734+7T>C (MYLK) ENSP00000508447.1:n.2734+7T>C
ENST00000685170.1:n.713+7T>C (MYLK)
ENST00000685259.1:c.3019+7T>C (MYLK)
ENST00000685665.1:c.217+7T>C (MYLK) ENSP00000509561.1:n.217+7T>C
ENST00000685744.1:c.217+7T>C (MYLK) ENSP00000510047.1:n.217+7T>C
ENST00000685907.1:n.3281+7T>C (MYLK)
ENST00000685953.1:c.1897+7T>C (MYLK) ENSP00000510593.1:n.1897+7T>C
ENST00000686039.1:c.2884+7T>C (MYLK)
ENST00000686245.1:c.2617+7T>C (MYLK) ENSP00000509313.1:n.2617+7T>C
ENST00000686281.1:n.792+7T>C (MYLK)
ENST00000686406.1:c.5497+7T>C (MYLK) ENSP00000509044.1:n.5497+7T>C
ENST00000686458.1:n.2002+7T>C (MYLK)
ENST00000686761.1:c.5500+7T>C (MYLK) ENSP00000508758.1:n.5500+7T>C
ENST00000687375.1:c.217+7T>C (MYLK) ENSP00000509867.1:n.217+7T>C
ENST00000687434.1:c.*1716+7T>C (MYLK) ENSP00000509751.1:n.*1716+7T>C
ENST00000687709.1:n.3555+7T>C (MYLK)
ENST00000687848.1:c.5530+7T>C (MYLK) ENSP00000508761.1:n.5530+7T>C
ENST00000688024.1:c.2731+7T>C (MYLK) ENSP00000509803.1:n.2731+7T>C
ENST00000688223.1:c.2530+7T>C (MYLK) ENSP00000508935.1:n.2530+7T>C
ENST00000689446.1:n.702+7T>C (MYLK)
ENST00000689868.1:n.5760+7T>C (MYLK)
ENST00000689918.1:n.1575+7T>C (MYLK)
ENST00000690086.1:n.1601+7T>C (MYLK)
ENST00000690167.1:n.3168+7T>C (MYLK)
ENST00000690457.1:c.4738+7T>C (MYLK) ENSP00000508777.1:n.4738+7T>C
ENST00000690534.1:n.2021+7T>C (MYLK)
ENST00000690656.1:n.205+7T>C (MYLK)
ENST00000691367.1:n.196+7T>C (MYLK)
ENST00000691933.1:c.3124+7T>C (MYLK)
ENST00000692356.1:c.88+1575T>C (MYLK) ENSP00000509805.1:n.88+1575T>C
ENST00000693689.1:c.5293+7T>C (MYLK) ENSP00000510503.1:n.5293+7T>C
XM_011512860.1:c.5497+7T>C (MYLK) XP_011511162.1:n.5497+7T>C
XM_011512860.3:c.5527+7T>C (MYLK) XP_011511162.2:n.5527+7T>C
XM_011512861.1:c.5296+7T>C (MYLK) XP_011511163.1:n.5296+7T>C
XM_011512861.3:c.5326+7T>C (MYLK) XP_011511163.2:n.5326+7T>C
XM_011512862.1:c.4972+7T>C (MYLK) XP_011511164.1:n.4972+7T>C
XM_017006469.2:c.2731+7T>C (MYLK) XP_016861958.1:n.2731+7T>C
XM_017006470.2:c.1897+7T>C (MYLK) XP_016861959.1:n.1897+7T>C
XM_017006471.2:c.1900+7T>C (MYLK) XP_016861960.1:n.1900+7T>C
XM_017006472.2:c.220+7T>C (MYLK) XP_016861961.1:n.220+7T>C
XM_017006473.1:c.217+7T>C (MYLK) XP_016861962.1:n.217+7T>C
XM_024453532.1:c.5530+7T>C (MYLK) XP_024309300.1:n.5530+7T>C
XM_024453533.1:c.5500+7T>C (MYLK) XP_024309301.1:n.5500+7T>C
XM_024453534.1:c.5323+7T>C (MYLK) XP_024309302.1:n.5323+7T>C
XM_024453535.1:c.5293+7T>C (MYLK) XP_024309303.1:n.5293+7T>C
XM_024453536.1:c.5500+7T>C (MYLK) XP_024309304.1:n.5500+7T>C
XM_024453537.1:c.5500+7T>C (MYLK) XP_024309305.1:n.5500+7T>C