Canonical Allele Identifier: CA072205

Gene: MYLK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123638150C>T , CM000665.2:g.123638150C>T	GRCh38
NC_000003.11:g.123356997C>T , CM000665.1:g.123356997C>T	GRCh37
NC_000003.10:g.124839687C>T	NCBI36
NG_029111.1:g.251153G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4675G>A	ENSP00000320622.6:p.Val1559Met
ENST00000508240.2:c.1282G>A	ENSP00000422984.2:p.Val428Met
ENST00000684879.1:n.2514G>A
ENST00000685021.1:c.2116G>A	ENSP00000508447.1:p.Val706Met
ENST00000685170.1:n.95G>A
ENST00000685259.1:c.2401G>A
ENST00000685907.1:n.2663G>A
ENST00000685953.1:c.1282G>A	ENSP00000510593.1:p.Val428Met
ENST00000686039.1:c.2266G>A
ENST00000686245.1:c.1999G>A	ENSP00000509313.1:p.Val667Met
ENST00000686281.1:n.174G>A
ENST00000686406.1:c.4882G>A	ENSP00000509044.1:p.Val1628Met
ENST00000686458.1:n.1384G>A
ENST00000686761.1:c.4882G>A	ENSP00000508758.1:p.Val1628Met
ENST00000686822.1:n.4776G>A
ENST00000687434.1:c.*1098G>A	ENSP00000509751.1:n.*1098G>A
ENST00000687709.1:n.2937G>A
ENST00000687848.1:c.4912G>A	ENSP00000508761.1:p.Val1638Met
ENST00000688024.1:c.2116G>A	ENSP00000509803.1:p.Val706Met
ENST00000688223.1:c.1912G>A	ENSP00000508935.1:p.Val638Met
ENST00000689446.1:n.87G>A
ENST00000689868.1:n.2610G>A
ENST00000689918.1:n.957G>A
ENST00000690086.1:n.983G>A
ENST00000690167.1:n.2553G>A
ENST00000690457.1:c.4120G>A	ENSP00000508777.1:p.Val1374Met
ENST00000690534.1:n.1403G>A
ENST00000691933.1:c.2506G>A
ENST00000692811.1:n.332G>A
ENST00000693689.1:c.4675G>A	ENSP00000510503.1:p.Val1559Met
ENST00000360304.8:c.4882G>A MANE Select	ENSP00000353452.3:p.Val1628Met
ENST00000346322.9:c.4675G>A	ENSP00000320622.5:p.Val1559Met
ENST00000354792.9:c.4675G>A	ENSP00000346846.6:p.Val1559Met
ENST00000359169.5:c.4882G>A	ENSP00000352088.1:p.Val1628Met
ENST00000360304.7:c.4882G>A	ENSP00000353452.3:p.Val1628Met
ENST00000360772.7:c.4882G>A	ENSP00000354004.3:p.Val1628Met
ENST00000464489.5:c.*4461G>A	ENSP00000417798.1:n.*4461G>A
ENST00000475616.5:c.4882G>A	ENSP00000418335.1:p.Val1628Met
NM_053025.3:c.4882G>A	NP_444253.3:p.Val1628Met
NM_053026.3:c.4675G>A	NP_444254.3:p.Val1559Met
NM_053027.3:c.4882G>A	NP_444255.3:p.Val1628Met
NM_053028.3:c.4675G>A	NP_444256.3:p.Val1559Met
XM_011512860.1:c.4882G>A	XP_011511162.1:p.Val1628Met
XM_011512861.1:c.4678G>A	XP_011511163.1:p.Val1560Met
XM_011512862.1:c.4354G>A	XP_011511164.1:p.Val1452Met
NM_001321309.1:c.4354G>A	NP_001308238.1:p.Val1452Met
XM_011512860.3:c.4912G>A	XP_011511162.2:p.Val1638Met
XM_011512861.3:c.4708G>A	XP_011511163.2:p.Val1570Met
XM_017006469.2:c.2116G>A	XP_016861958.1:p.Val706Met
XM_017006470.2:c.1282G>A	XP_016861959.1:p.Val428Met
XM_017006471.2:c.1282G>A	XP_016861960.1:p.Val428Met
XM_024453532.1:c.4912G>A	XP_024309300.1:p.Val1638Met
XM_024453533.1:c.4882G>A	XP_024309301.1:p.Val1628Met
XM_024453534.1:c.4705G>A	XP_024309302.1:p.Val1569Met
XM_024453535.1:c.4675G>A	XP_024309303.1:p.Val1559Met
XM_024453536.1:c.4882G>A	XP_024309304.1:p.Val1628Met
XM_024453537.1:c.4882G>A	XP_024309305.1:p.Val1628Met
NM_001321309.2:c.4354G>A	NP_001308238.1:p.Val1452Met
NM_053025.4:c.4882G>A MANE Select	NP_444253.3:p.Val1628Met
NM_053026.4:c.4675G>A	NP_444254.3:p.Val1559Met
NM_053027.4:c.4882G>A	NP_444255.3:p.Val1628Met
NM_053028.4:c.4675G>A	NP_444256.3:p.Val1559Met