Canonical Allele Identifier: CA072576
Community Standard Title: NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met)
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123626924G>A , CM000665.2:g.123626924G>A GRCh38
NC_000003.11:g.123345771G>A , CM000665.1:g.123345771G>A GRCh37
NC_000003.10:g.124828461G>A NCBI36
NG_029111.1:g.262379C>T

Transcript Alleles

HGVS Amino-acid Change
NM_053025.4:c.5132C>T (MYLK) MANE Select NP_444253.3:p.Thr1711Met
ENST00000360304.8:c.5132C>T (MYLK) MANE Select ENSP00000353452.3:p.Thr1711Met
NM_001321309.1:c.4604C>T (MYLK) NP_001308238.1:p.Thr1535Met
NM_001321309.2:c.4604C>T (MYLK) NP_001308238.1:p.Thr1535Met
NM_053025.3:c.5132C>T (MYLK) NP_444253.3:p.Thr1711Met
NM_053026.3:c.4925C>T (MYLK) NP_444254.3:p.Thr1642Met
NM_053026.4:c.4925C>T (MYLK) NP_444254.3:p.Thr1642Met
NM_053027.3:c.4979C>T (MYLK) NP_444255.3:p.Thr1660Met
NM_053027.4:c.4979C>T (MYLK) NP_444255.3:p.Thr1660Met
NM_053028.3:c.4772C>T (MYLK) NP_444256.3:p.Thr1591Met
NM_053028.4:c.4772C>T (MYLK) NP_444256.3:p.Thr1591Met
NR_038266.2:n.290-2570G>A (MYLK-AS1)
NR_121654.1:n.197-2570G>A (MYLK-AS1)
ENST00000346322.10:c.4772C>T (MYLK) ENSP00000320622.6:p.Thr1591Met
ENST00000346322.9:c.4925C>T (MYLK) ENSP00000320622.5:p.Thr1642Met
ENST00000354792.9:c.4925C>T (MYLK) ENSP00000346846.6:p.Thr1642Met
ENST00000359169.5:c.4979C>T (MYLK) ENSP00000352088.1:p.Thr1660Met
ENST00000360304.7:c.5132C>T (MYLK) ENSP00000353452.3:p.Thr1711Met
ENST00000360772.7:c.4979C>T (MYLK) ENSP00000354004.3:p.Thr1660Met
ENST00000464489.5:c.*4711C>T (MYLK) ENSP00000417798.1:n.*4711C>T
ENST00000475616.5:c.5132C>T (MYLK) ENSP00000418335.1:p.Thr1711Met
ENST00000508240.2:c.1532C>T (MYLK) ENSP00000422984.2:p.Thr511Met
ENST00000684879.1:n.2764C>T (MYLK)
ENST00000685021.1:c.2366C>T (MYLK) ENSP00000508447.1:p.Thr789Met
ENST00000685170.1:n.345C>T (MYLK)
ENST00000685259.1:c.2651C>T (MYLK)
ENST00000685907.1:n.2913C>T (MYLK)
ENST00000685953.1:c.1532C>T (MYLK) ENSP00000510593.1:p.Thr511Met
ENST00000686039.1:c.2516C>T (MYLK)
ENST00000686245.1:c.2249C>T (MYLK) ENSP00000509313.1:p.Thr750Met
ENST00000686281.1:n.424C>T (MYLK)
ENST00000686406.1:c.5132C>T (MYLK) ENSP00000509044.1:p.Thr1711Met
ENST00000686458.1:n.1634C>T (MYLK)
ENST00000686761.1:c.5132C>T (MYLK) ENSP00000508758.1:p.Thr1711Met
ENST00000686822.1:n.5026C>T (MYLK)
ENST00000687434.1:c.*1348C>T (MYLK) ENSP00000509751.1:n.*1348C>T
ENST00000687709.1:n.3187C>T (MYLK)
ENST00000687848.1:c.5162C>T (MYLK) ENSP00000508761.1:p.Thr1721Met
ENST00000688024.1:c.2366C>T (MYLK) ENSP00000509803.1:p.Thr789Met
ENST00000688223.1:c.2162C>T (MYLK) ENSP00000508935.1:p.Thr721Met
ENST00000689446.1:n.337C>T (MYLK)
ENST00000689868.1:n.5392C>T (MYLK)
ENST00000689918.1:n.1207C>T (MYLK)
ENST00000690086.1:n.1233C>T (MYLK)
ENST00000690167.1:n.2803C>T (MYLK)
ENST00000690457.1:c.4370C>T (MYLK) ENSP00000508777.1:p.Thr1457Met
ENST00000690534.1:n.1653C>T (MYLK)
ENST00000691933.1:c.2756C>T (MYLK)
ENST00000692811.1:n.582C>T (MYLK)
ENST00000693689.1:c.4925C>T (MYLK) ENSP00000510503.1:p.Thr1642Met
XM_011512860.1:c.5132C>T (MYLK) XP_011511162.1:p.Thr1711Met
XM_011512860.3:c.5162C>T (MYLK) XP_011511162.2:p.Thr1721Met
XM_011512861.1:c.4928C>T (MYLK) XP_011511163.1:p.Thr1643Met
XM_011512861.3:c.4958C>T (MYLK) XP_011511163.2:p.Thr1653Met
XM_011512862.1:c.4604C>T (MYLK) XP_011511164.1:p.Thr1535Met
XM_017006469.2:c.2366C>T (MYLK) XP_016861958.1:p.Thr789Met
XM_017006470.2:c.1532C>T (MYLK) XP_016861959.1:p.Thr511Met
XM_017006471.2:c.1532C>T (MYLK) XP_016861960.1:p.Thr511Met
XM_024453532.1:c.5162C>T (MYLK) XP_024309300.1:p.Thr1721Met
XM_024453533.1:c.5132C>T (MYLK) XP_024309301.1:p.Thr1711Met
XM_024453534.1:c.4955C>T (MYLK) XP_024309302.1:p.Thr1652Met
XM_024453535.1:c.4925C>T (MYLK) XP_024309303.1:p.Thr1642Met
XM_024453536.1:c.5132C>T (MYLK) XP_024309304.1:p.Thr1711Met
XM_024453537.1:c.5132C>T (MYLK) XP_024309305.1:p.Thr1711Met