Canonical Allele Identifier: CA068704

Gene: MYLK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123700935G>A , CM000665.2:g.123700935G>A	GRCh38
NC_000003.11:g.123419782G>A , CM000665.1:g.123419782G>A	GRCh37
NC_000003.10:g.124902472G>A	NCBI36
NG_029111.1:g.188368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.2326C>T	ENSP00000320622.6:p.Arg776Cys
ENST00000504946.6:c.143C>T
ENST00000684879.1:n.165C>T
ENST00000685021.1:c.-234C>T	ENSP00000508447.1:n.-234C>T
ENST00000685259.1:c.71C>T
ENST00000685907.1:n.314C>T
ENST00000686039.1:c.71C>T
ENST00000686245.1:c.-234C>T	ENSP00000509313.1:n.-234C>T
ENST00000686406.1:c.2533C>T	ENSP00000509044.1:p.Arg845Cys
ENST00000686761.1:c.2533C>T	ENSP00000508758.1:p.Arg845Cys
ENST00000686822.1:n.2427C>T
ENST00000687848.1:c.2563C>T	ENSP00000508761.1:p.Arg855Cys
ENST00000688024.1:c.-234C>T	ENSP00000509803.1:n.-234C>T
ENST00000688223.1:c.-234C>T	ENSP00000508935.1:n.-234C>T
ENST00000689227.1:c.71C>T
ENST00000689868.1:n.261C>T
ENST00000690167.1:n.204C>T
ENST00000690457.1:c.1771C>T	ENSP00000508777.1:p.Arg591Cys
ENST00000691933.1:c.71C>T
ENST00000692352.1:c.71C>T
ENST00000693689.1:c.2326C>T	ENSP00000510503.1:p.Arg776Cys
ENST00000360304.8:c.2533C>T MANE Select	ENSP00000353452.3:p.Arg845Cys
ENST00000346322.9:c.2326C>T	ENSP00000320622.5:p.Arg776Cys
ENST00000354792.9:c.2326C>T	ENSP00000346846.6:p.Arg776Cys
ENST00000359169.5:c.2533C>T	ENSP00000352088.1:p.Arg845Cys
ENST00000360304.7:c.2533C>T	ENSP00000353452.3:p.Arg845Cys
ENST00000360772.7:c.2533C>T	ENSP00000354004.3:p.Arg845Cys
ENST00000464489.5:c.*2112C>T	ENSP00000417798.1:n.*2112C>T
ENST00000475616.5:c.2533C>T	ENSP00000418335.1:p.Arg845Cys
ENST00000504946.5:n.91C>T
NM_053025.3:c.2533C>T	NP_444253.3:p.Arg845Cys
NM_053026.3:c.2326C>T	NP_444254.3:p.Arg776Cys
NM_053027.3:c.2533C>T	NP_444255.3:p.Arg845Cys
NM_053028.3:c.2326C>T	NP_444256.3:p.Arg776Cys
XM_011512860.1:c.2533C>T	XP_011511162.1:p.Arg845Cys
XM_011512861.1:c.2533C>T	XP_011511163.1:p.Arg845Cys
XM_011512862.1:c.2005C>T	XP_011511164.1:p.Arg669Cys
XR_241556.2:n.90-763G>A
XR_924416.1:n.90-2934G>A
XR_924417.1:n.83-2931G>A
NM_001321309.1:c.2005C>T	NP_001308238.1:p.Arg669Cys
XM_011512860.3:c.2563C>T	XP_011511162.2:p.Arg855Cys
XM_011512861.3:c.2563C>T	XP_011511163.2:p.Arg855Cys
XM_017006469.2:c.-234C>T	XP_016861958.1:n.-234C>T
XM_024453532.1:c.2563C>T	XP_024309300.1:p.Arg855Cys
XM_024453533.1:c.2533C>T	XP_024309301.1:p.Arg845Cys
XM_024453534.1:c.2356C>T	XP_024309302.1:p.Arg786Cys
XM_024453535.1:c.2326C>T	XP_024309303.1:p.Arg776Cys
XM_024453536.1:c.2533C>T	XP_024309304.1:p.Arg845Cys
XM_024453537.1:c.2533C>T	XP_024309305.1:p.Arg845Cys
XR_002959642.1:n.88-763G>A
XR_002959643.1:n.88-2931G>A
XR_002959644.1:n.88-2934G>A
XR_924417.3:n.108-2931G>A
NM_001321309.2:c.2005C>T	NP_001308238.1:p.Arg669Cys
NM_053025.4:c.2533C>T MANE Select	NP_444253.3:p.Arg845Cys
NM_053026.4:c.2326C>T	NP_444254.3:p.Arg776Cys
NM_053027.4:c.2533C>T	NP_444255.3:p.Arg845Cys
NM_053028.4:c.2326C>T	NP_444256.3:p.Arg776Cys