Canonical Allele Identifier: CA073177
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123614175G>A , CM000665.2:g.123614175G>A GRCh38
NC_000003.11:g.123333022G>A , CM000665.1:g.123333022G>A GRCh37
NC_000003.10:g.124815712G>A NCBI36
NG_029111.1:g.275128C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5315C>T (MYLK) ENSP00000320622.6:p.Thr1772Ile
ENST00000508240.2:c.2075C>T (MYLK) ENSP00000422984.2:p.Thr692Ile
ENST00000578202.2:c.*180C>T (MYLK) ENSP00000463691.2:n.*180C>T
ENST00000583087.6:c.395C>T (MYLK) ENSP00000462118.1:p.Thr132Ile
ENST00000685021.1:c.2909C>T (MYLK) ENSP00000508447.1:p.Thr970Ile
ENST00000685170.1:n.888C>T (MYLK)
ENST00000685259.1:c.3194C>T (MYLK)
ENST00000685744.1:c.392C>T (MYLK) ENSP00000510047.1:p.Thr131Ile
ENST00000685907.1:n.3456C>T (MYLK)
ENST00000685953.1:c.2072C>T (MYLK) ENSP00000510593.1:p.Thr691Ile
ENST00000686039.1:c.3059C>T (MYLK)
ENST00000686245.1:c.2792C>T (MYLK) ENSP00000509313.1:p.Thr931Ile
ENST00000686281.1:n.967C>T (MYLK)
ENST00000686406.1:c.5672C>T (MYLK) ENSP00000509044.1:p.Thr1891Ile
ENST00000686458.1:n.2177C>T (MYLK)
ENST00000686761.1:c.5675C>T (MYLK) ENSP00000508758.1:p.Thr1892Ile
ENST00000687375.1:c.392C>T (MYLK) ENSP00000509867.1:p.Thr131Ile
ENST00000687434.1:c.*1891C>T (MYLK) ENSP00000509751.1:n.*1891C>T
ENST00000687709.1:n.3730C>T (MYLK)
ENST00000687848.1:c.5705C>T (MYLK) ENSP00000508761.1:p.Thr1902Ile
ENST00000688024.1:c.2906C>T (MYLK) ENSP00000509803.1:p.Thr969Ile
ENST00000688223.1:c.2705C>T (MYLK) ENSP00000508935.1:p.Thr902Ile
ENST00000689446.1:n.877C>T (MYLK)
ENST00000689868.1:n.5935C>T (MYLK)
ENST00000689918.1:n.1750C>T (MYLK)
ENST00000690167.1:n.3343C>T (MYLK)
ENST00000690457.1:c.4913C>T (MYLK) ENSP00000508777.1:p.Thr1638Ile
ENST00000690656.1:n.380C>T (MYLK)
ENST00000691367.1:n.371C>T (MYLK)
ENST00000691933.1:c.3299C>T (MYLK)
ENST00000692356.1:c.89-63C>T (MYLK) ENSP00000509805.1:n.89-63C>T
ENST00000692507.1:n.1479C>T (MYLK)
ENST00000693689.1:c.5468C>T (MYLK) ENSP00000510503.1:p.Thr1823Ile
ENST00000360304.8:c.5675C>T (MYLK) MANE Select ENSP00000353452.3:p.Thr1892Ile
ENST00000346322.9:c.5468C>T (MYLK) ENSP00000320622.5:p.Thr1823Ile
ENST00000354792.9:c.5468C>T (MYLK) ENSP00000346846.6:p.Thr1823Ile
ENST00000359169.5:c.5522C>T (MYLK) ENSP00000352088.1:p.Thr1841Ile
ENST00000360304.7:c.5675C>T (MYLK) ENSP00000353452.3:p.Thr1892Ile
ENST00000360772.7:c.5522C>T (MYLK) ENSP00000354004.3:p.Thr1841Ile
ENST00000418370.6:c.395C>T (MYLK) ENSP00000428967.1:p.Thr132Ile
ENST00000464489.5:c.*5254C>T (MYLK) ENSP00000417798.1:n.*5254C>T
ENST00000475616.5:c.5675C>T (MYLK) ENSP00000418335.1:p.Thr1892Ile
ENST00000578202.1:c.392C>T (MYLK) ENSP00000463691.1:p.Thr131Ile
ENST00000583087.5:c.395C>T (MYLK) ENSP00000462118.1:p.Thr132Ile
NM_053025.3:c.5675C>T (MYLK) NP_444253.3:p.Thr1892Ile
NM_053026.3:c.5468C>T (MYLK) NP_444254.3:p.Thr1823Ile
NM_053027.3:c.5522C>T (MYLK) NP_444255.3:p.Thr1841Ile
NM_053028.3:c.5315C>T (MYLK) NP_444256.3:p.Thr1772Ile
NM_053031.2:c.392C>T (MYLK) NP_444259.1:p.Thr131Ile
NM_053032.2:c.395C>T (MYLK) NP_444260.1:p.Thr132Ile
NR_038266.2:n.290-15319G>A (MYLK-AS1)
NR_121654.1:n.197-15319G>A (MYLK-AS1)
XM_011512860.1:c.5672C>T (MYLK) XP_011511162.1:p.Thr1891Ile
XM_011512861.1:c.5471C>T (MYLK) XP_011511163.1:p.Thr1824Ile
XM_011512862.1:c.5147C>T (MYLK) XP_011511164.1:p.Thr1716Ile
NM_001321309.1:c.5147C>T (MYLK) NP_001308238.1:p.Thr1716Ile
NM_053031.3:c.392C>T (MYLK) NP_444259.1:p.Thr131Ile
NM_053032.3:c.395C>T (MYLK) NP_444260.1:p.Thr132Ile
XM_011512860.3:c.5702C>T (MYLK) XP_011511162.2:p.Thr1901Ile
XM_011512861.3:c.5501C>T (MYLK) XP_011511163.2:p.Thr1834Ile
XM_017006469.2:c.2906C>T (MYLK) XP_016861958.1:p.Thr969Ile
XM_017006470.2:c.2072C>T (MYLK) XP_016861959.1:p.Thr691Ile
XM_017006471.2:c.2075C>T (MYLK) XP_016861960.1:p.Thr692Ile
XM_017006472.2:c.395C>T (MYLK) XP_016861961.1:p.Thr132Ile
XM_017006473.1:c.392C>T (MYLK) XP_016861962.1:p.Thr131Ile
XM_024453532.1:c.5705C>T (MYLK) XP_024309300.1:p.Thr1902Ile
XM_024453533.1:c.5675C>T (MYLK) XP_024309301.1:p.Thr1892Ile
XM_024453534.1:c.5498C>T (MYLK) XP_024309302.1:p.Thr1833Ile
XM_024453535.1:c.5468C>T (MYLK) XP_024309303.1:p.Thr1823Ile
XM_024453536.1:c.5675C>T (MYLK) XP_024309304.1:p.Thr1892Ile
XM_024453537.1:c.5675C>T (MYLK) XP_024309305.1:p.Thr1892Ile
NM_001321309.2:c.5147C>T (MYLK) NP_001308238.1:p.Thr1716Ile
NM_053025.4:c.5675C>T (MYLK) MANE Select NP_444253.3:p.Thr1892Ile
NM_053026.4:c.5468C>T (MYLK) NP_444254.3:p.Thr1823Ile
NM_053027.4:c.5522C>T (MYLK) NP_444255.3:p.Thr1841Ile
NM_053028.4:c.5315C>T (MYLK) NP_444256.3:p.Thr1772Ile
NM_053031.4:c.392C>T (MYLK) NP_444259.1:p.Thr131Ile
NM_053032.4:c.395C>T (MYLK) NP_444260.1:p.Thr132Ile