Canonical Allele Identifier: CA070785

Gene: MYLK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123657427A>C , CM000665.2:g.123657427A>C	GRCh38
NC_000003.11:g.123376274A>C , CM000665.1:g.123376274A>C	GRCh37
NC_000003.10:g.124858964A>C	NCBI36
NG_029111.1:g.231876T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.3780T>G	ENSP00000320622.6:p.Asp1260Glu
ENST00000508240.2:c.387T>G	ENSP00000422984.2:p.Asp129Glu
ENST00000513111.2:n.117T>G
ENST00000684879.1:n.1619T>G
ENST00000685021.1:c.1221T>G	ENSP00000508447.1:p.Asp407Glu
ENST00000685259.1:c.1525T>G
ENST00000685907.1:n.1768T>G
ENST00000685953.1:c.387T>G	ENSP00000510593.1:p.Asp129Glu
ENST00000686039.1:c.1371T>G
ENST00000686245.1:c.1104T>G	ENSP00000509313.1:p.Asp368Glu
ENST00000686406.1:c.3987T>G	ENSP00000509044.1:p.Asp1329Glu
ENST00000686458.1:n.489T>G
ENST00000686761.1:c.3987T>G	ENSP00000508758.1:p.Asp1329Glu
ENST00000686822.1:n.3881T>G
ENST00000687434.1:c.*203T>G	ENSP00000509751.1:n.*203T>G
ENST00000687709.1:n.2042T>G
ENST00000687848.1:c.4017T>G	ENSP00000508761.1:p.Asp1339Glu
ENST00000688024.1:c.1221T>G	ENSP00000509803.1:p.Asp407Glu
ENST00000688223.1:c.1221T>G	ENSP00000508935.1:p.Asp407Glu
ENST00000689868.1:n.1715T>G
ENST00000689918.1:n.62T>G
ENST00000689957.1:n.536T>G
ENST00000690086.1:n.88T>G
ENST00000690167.1:n.1658T>G
ENST00000690176.1:n.252T>G
ENST00000690457.1:c.3225T>G	ENSP00000508777.1:p.Asp1075Glu
ENST00000690534.1:n.508T>G
ENST00000691933.1:c.1525T>G
ENST00000692352.1:c.1525T>G
ENST00000693689.1:c.3780T>G	ENSP00000510503.1:p.Asp1260Glu
ENST00000360304.8:c.3987T>G MANE Select	ENSP00000353452.3:p.Asp1329Glu
ENST00000346322.9:c.3780T>G	ENSP00000320622.5:p.Asp1260Glu
ENST00000354792.9:c.3780T>G	ENSP00000346846.6:p.Asp1260Glu
ENST00000359169.5:c.3987T>G	ENSP00000352088.1:p.Asp1329Glu
ENST00000360304.7:c.3987T>G	ENSP00000353452.3:p.Asp1329Glu
ENST00000360772.7:c.3987T>G	ENSP00000354004.3:p.Asp1329Glu
ENST00000464489.5:c.*3566T>G	ENSP00000417798.1:n.*3566T>G
ENST00000475616.5:c.3987T>G	ENSP00000418335.1:p.Asp1329Glu
ENST00000508240.1:c.387T>G	ENSP00000422984.1:p.Asp129Glu
NM_053025.3:c.3987T>G	NP_444253.3:p.Asp1329Glu
NM_053026.3:c.3780T>G	NP_444254.3:p.Asp1260Glu
NM_053027.3:c.3987T>G	NP_444255.3:p.Asp1329Glu
NM_053028.3:c.3780T>G	NP_444256.3:p.Asp1260Glu
XM_011512860.1:c.3987T>G	XP_011511162.1:p.Asp1329Glu
XM_011512861.1:c.3987T>G	XP_011511163.1:p.Asp1329Glu
XM_011512862.1:c.3459T>G	XP_011511164.1:p.Asp1153Glu
NM_001321309.1:c.3459T>G	NP_001308238.1:p.Asp1153Glu
XM_011512860.3:c.4017T>G	XP_011511162.2:p.Asp1339Glu
XM_011512861.3:c.4017T>G	XP_011511163.2:p.Asp1339Glu
XM_017006469.2:c.1221T>G	XP_016861958.1:p.Asp407Glu
XM_017006470.2:c.387T>G	XP_016861959.1:p.Asp129Glu
XM_017006471.2:c.387T>G	XP_016861960.1:p.Asp129Glu
XM_024453532.1:c.4017T>G	XP_024309300.1:p.Asp1339Glu
XM_024453533.1:c.3987T>G	XP_024309301.1:p.Asp1329Glu
XM_024453534.1:c.3810T>G	XP_024309302.1:p.Asp1270Glu
XM_024453535.1:c.3780T>G	XP_024309303.1:p.Asp1260Glu
XM_024453536.1:c.3987T>G	XP_024309304.1:p.Asp1329Glu
XM_024453537.1:c.3987T>G	XP_024309305.1:p.Asp1329Glu
NM_001321309.2:c.3459T>G	NP_001308238.1:p.Asp1153Glu
NM_053025.4:c.3987T>G MANE Select	NP_444253.3:p.Asp1329Glu
NM_053026.4:c.3780T>G	NP_444254.3:p.Asp1260Glu
NM_053027.4:c.3987T>G	NP_444255.3:p.Asp1329Glu
NM_053028.4:c.3780T>G	NP_444256.3:p.Asp1260Glu