Canonical Allele Identifier: CA073081
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123614331A>G , CM000665.2:g.123614331A>G GRCh38
NC_000003.11:g.123333178A>G , CM000665.1:g.123333178A>G GRCh37
NC_000003.10:g.124815868A>G NCBI36
NG_029111.1:g.274972T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5159T>C (MYLK) ENSP00000320622.6:p.Val1720Ala
ENST00000508240.2:c.1919T>C (MYLK) ENSP00000422984.2:p.Val640Ala
ENST00000578202.2:c.*24T>C (MYLK) ENSP00000463691.2:n.*24T>C
ENST00000583087.6:c.239T>C (MYLK) ENSP00000462118.1:p.Val80Ala
ENST00000684882.1:c.*126T>C (MYLK) ENSP00000510459.1:n.*126T>C
ENST00000685021.1:c.2753T>C (MYLK) ENSP00000508447.1:p.Val918Ala
ENST00000685170.1:n.732T>C (MYLK)
ENST00000685259.1:c.3038T>C (MYLK)
ENST00000685744.1:c.236T>C (MYLK) ENSP00000510047.1:p.Val79Ala
ENST00000685907.1:n.3300T>C (MYLK)
ENST00000685953.1:c.1916T>C (MYLK) ENSP00000510593.1:p.Val639Ala
ENST00000686039.1:c.2903T>C (MYLK)
ENST00000686245.1:c.2636T>C (MYLK) ENSP00000509313.1:p.Val879Ala
ENST00000686281.1:n.811T>C (MYLK)
ENST00000686406.1:c.5516T>C (MYLK) ENSP00000509044.1:p.Val1839Ala
ENST00000686458.1:n.2021T>C (MYLK)
ENST00000686761.1:c.5519T>C (MYLK) ENSP00000508758.1:p.Val1840Ala
ENST00000687375.1:c.236T>C (MYLK) ENSP00000509867.1:p.Val79Ala
ENST00000687434.1:c.*1735T>C (MYLK) ENSP00000509751.1:n.*1735T>C
ENST00000687709.1:n.3574T>C (MYLK)
ENST00000687848.1:c.5549T>C (MYLK) ENSP00000508761.1:p.Val1850Ala
ENST00000688024.1:c.2750T>C (MYLK) ENSP00000509803.1:p.Val917Ala
ENST00000688223.1:c.2549T>C (MYLK) ENSP00000508935.1:p.Val850Ala
ENST00000689446.1:n.721T>C (MYLK)
ENST00000689868.1:n.5779T>C (MYLK)
ENST00000689918.1:n.1594T>C (MYLK)
ENST00000690086.1:n.1620T>C (MYLK)
ENST00000690167.1:n.3187T>C (MYLK)
ENST00000690457.1:c.4757T>C (MYLK) ENSP00000508777.1:p.Val1586Ala
ENST00000690534.1:n.2040T>C (MYLK)
ENST00000690656.1:n.224T>C (MYLK)
ENST00000691367.1:n.215T>C (MYLK)
ENST00000691933.1:c.3143T>C (MYLK)
ENST00000692356.1:c.89-219T>C (MYLK) ENSP00000509805.1:n.89-219T>C
ENST00000692507.1:n.1323T>C (MYLK)
ENST00000693689.1:c.5312T>C (MYLK) ENSP00000510503.1:p.Val1771Ala
ENST00000360304.8:c.5519T>C (MYLK) MANE Select ENSP00000353452.3:p.Val1840Ala
ENST00000346322.9:c.5312T>C (MYLK) ENSP00000320622.5:p.Val1771Ala
ENST00000354792.9:c.5312T>C (MYLK) ENSP00000346846.6:p.Val1771Ala
ENST00000359169.5:c.5366T>C (MYLK) ENSP00000352088.1:p.Val1789Ala
ENST00000360304.7:c.5519T>C (MYLK) ENSP00000353452.3:p.Val1840Ala
ENST00000360772.7:c.5366T>C (MYLK) ENSP00000354004.3:p.Val1789Ala
ENST00000418370.6:c.239T>C (MYLK) ENSP00000428967.1:p.Val80Ala
ENST00000464489.5:c.*5098T>C (MYLK) ENSP00000417798.1:n.*5098T>C
ENST00000475616.5:c.5519T>C (MYLK) ENSP00000418335.1:p.Val1840Ala
ENST00000578202.1:c.236T>C (MYLK) ENSP00000463691.1:p.Val79Ala
ENST00000583087.5:c.239T>C (MYLK) ENSP00000462118.1:p.Val80Ala
NM_053025.3:c.5519T>C (MYLK) NP_444253.3:p.Val1840Ala
NM_053026.3:c.5312T>C (MYLK) NP_444254.3:p.Val1771Ala
NM_053027.3:c.5366T>C (MYLK) NP_444255.3:p.Val1789Ala
NM_053028.3:c.5159T>C (MYLK) NP_444256.3:p.Val1720Ala
NM_053031.2:c.236T>C (MYLK) NP_444259.1:p.Val79Ala
NM_053032.2:c.239T>C (MYLK) NP_444260.1:p.Val80Ala
NR_038266.2:n.290-15163A>G (MYLK-AS1)
NR_121654.1:n.197-15163A>G (MYLK-AS1)
XM_011512860.1:c.5516T>C (MYLK) XP_011511162.1:p.Val1839Ala
XM_011512861.1:c.5315T>C (MYLK) XP_011511163.1:p.Val1772Ala
XM_011512862.1:c.4991T>C (MYLK) XP_011511164.1:p.Val1664Ala
NM_001321309.1:c.4991T>C (MYLK) NP_001308238.1:p.Val1664Ala
NM_053031.3:c.236T>C (MYLK) NP_444259.1:p.Val79Ala
NM_053032.3:c.239T>C (MYLK) NP_444260.1:p.Val80Ala
XM_011512860.3:c.5546T>C (MYLK) XP_011511162.2:p.Val1849Ala
XM_011512861.3:c.5345T>C (MYLK) XP_011511163.2:p.Val1782Ala
XM_017006469.2:c.2750T>C (MYLK) XP_016861958.1:p.Val917Ala
XM_017006470.2:c.1916T>C (MYLK) XP_016861959.1:p.Val639Ala
XM_017006471.2:c.1919T>C (MYLK) XP_016861960.1:p.Val640Ala
XM_017006472.2:c.239T>C (MYLK) XP_016861961.1:p.Val80Ala
XM_017006473.1:c.236T>C (MYLK) XP_016861962.1:p.Val79Ala
XM_024453532.1:c.5549T>C (MYLK) XP_024309300.1:p.Val1850Ala
XM_024453533.1:c.5519T>C (MYLK) XP_024309301.1:p.Val1840Ala
XM_024453534.1:c.5342T>C (MYLK) XP_024309302.1:p.Val1781Ala
XM_024453535.1:c.5312T>C (MYLK) XP_024309303.1:p.Val1771Ala
XM_024453536.1:c.5519T>C (MYLK) XP_024309304.1:p.Val1840Ala
XM_024453537.1:c.5519T>C (MYLK) XP_024309305.1:p.Val1840Ala
NM_001321309.2:c.4991T>C (MYLK) NP_001308238.1:p.Val1664Ala
NM_053025.4:c.5519T>C (MYLK) MANE Select NP_444253.3:p.Val1840Ala
NM_053026.4:c.5312T>C (MYLK) NP_444254.3:p.Val1771Ala
NM_053027.4:c.5366T>C (MYLK) NP_444255.3:p.Val1789Ala
NM_053028.4:c.5159T>C (MYLK) NP_444256.3:p.Val1720Ala
NM_053031.4:c.236T>C (MYLK) NP_444259.1:p.Val79Ala
NM_053032.4:c.239T>C (MYLK) NP_444260.1:p.Val80Ala