Canonical Allele Identifier: CA354227154

Gene: MYLK

Linked Data

• MyVariant Identifiers: chr3:g.123366165C>A (hg19) ; chr3:g.123647318C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123647318C>A , CM000665.2:g.123647318C>A	GRCh38
NC_000003.11:g.123366165C>A , CM000665.1:g.123366165C>A	GRCh37
NC_000003.10:g.124848855C>A	NCBI36
NG_029111.1:g.241985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4318G>T	ENSP00000320622.6:p.Glu1440Ter
ENST00000508240.2:c.925G>T	ENSP00000422984.2:p.Glu309Ter
ENST00000513111.2:n.655G>T
ENST00000684879.1:n.2157G>T
ENST00000685021.1:c.1759G>T	ENSP00000508447.1:p.Glu587Ter
ENST00000685259.1:c.2044G>T
ENST00000685907.1:n.2306G>T
ENST00000685953.1:c.925G>T	ENSP00000510593.1:p.Glu309Ter
ENST00000686039.1:c.1909G>T
ENST00000686245.1:c.1642G>T	ENSP00000509313.1:p.Glu548Ter
ENST00000686406.1:c.4525G>T	ENSP00000509044.1:p.Glu1509Ter
ENST00000686458.1:n.1027G>T
ENST00000686761.1:c.4525G>T	ENSP00000508758.1:p.Glu1509Ter
ENST00000686822.1:n.4419G>T
ENST00000687434.1:c.*741G>T	ENSP00000509751.1:n.*741G>T
ENST00000687709.1:n.2580G>T
ENST00000687848.1:c.4555G>T	ENSP00000508761.1:p.Glu1519Ter
ENST00000688024.1:c.1759G>T	ENSP00000509803.1:p.Glu587Ter
ENST00000688223.1:c.1649+1653G>T	ENSP00000508935.1:n.1649+1653G>T
ENST00000689868.1:n.2253G>T
ENST00000689918.1:n.600G>T
ENST00000690086.1:n.626G>T
ENST00000690167.1:n.2196G>T
ENST00000690457.1:c.3763G>T	ENSP00000508777.1:p.Glu1255Ter
ENST00000690534.1:n.1046G>T
ENST00000691933.1:c.2149G>T
ENST00000692352.1:c.2063G>T
ENST00000693689.1:c.4318G>T	ENSP00000510503.1:p.Glu1440Ter
ENST00000360304.8:c.4525G>T MANE Select	ENSP00000353452.3:p.Glu1509Ter
ENST00000346322.9:c.4318G>T	ENSP00000320622.5:p.Glu1440Ter
ENST00000354792.9:c.4318G>T	ENSP00000346846.6:p.Glu1440Ter
ENST00000359169.5:c.4525G>T	ENSP00000352088.1:p.Glu1509Ter
ENST00000360304.7:c.4525G>T	ENSP00000353452.3:p.Glu1509Ter
ENST00000360772.7:c.4525G>T	ENSP00000354004.3:p.Glu1509Ter
ENST00000464489.5:c.*4104G>T	ENSP00000417798.1:n.*4104G>T
ENST00000475616.5:c.4525G>T	ENSP00000418335.1:p.Glu1509Ter
ENST00000513111.1:n.237G>T
ENST00000514895.5:n.94+1653G>T
NM_053025.3:c.4525G>T	NP_444253.3:p.Glu1509Ter
NM_053026.3:c.4318G>T	NP_444254.3:p.Glu1440Ter
NM_053027.3:c.4525G>T	NP_444255.3:p.Glu1509Ter
NM_053028.3:c.4318G>T	NP_444256.3:p.Glu1440Ter
XM_011512860.1:c.4525G>T	XP_011511162.1:p.Glu1509Ter
XM_011512861.1:c.4415+1653G>T	XP_011511163.1:n.4415+1653G>T
XM_011512862.1:c.3997G>T	XP_011511164.1:p.Glu1333Ter
NM_001321309.1:c.3997G>T	NP_001308238.1:p.Glu1333Ter
XM_011512860.3:c.4555G>T	XP_011511162.2:p.Glu1519Ter
XM_011512861.3:c.4445+1653G>T	XP_011511163.2:n.4445+1653G>T
XM_017006469.2:c.1759G>T	XP_016861958.1:p.Glu587Ter
XM_017006470.2:c.925G>T	XP_016861959.1:p.Glu309Ter
XM_017006471.2:c.925G>T	XP_016861960.1:p.Glu309Ter
XM_024453532.1:c.4555G>T	XP_024309300.1:p.Glu1519Ter
XM_024453533.1:c.4525G>T	XP_024309301.1:p.Glu1509Ter
XM_024453534.1:c.4348G>T	XP_024309302.1:p.Glu1450Ter
XM_024453535.1:c.4318G>T	XP_024309303.1:p.Glu1440Ter
XM_024453536.1:c.4525G>T	XP_024309304.1:p.Glu1509Ter
XM_024453537.1:c.4525G>T	XP_024309305.1:p.Glu1509Ter
NM_001321309.2:c.3997G>T	NP_001308238.1:p.Glu1333Ter
NM_053025.4:c.4525G>T MANE Select	NP_444253.3:p.Glu1509Ter
NM_053026.4:c.4318G>T	NP_444254.3:p.Glu1440Ter
NM_053027.4:c.4525G>T	NP_444255.3:p.Glu1509Ter
NM_053028.4:c.4318G>T	NP_444256.3:p.Glu1440Ter