Canonical Allele Identifier: CA435298809

Gene: MYLK

Linked Data

• ClinVar Variation Id: 3228920
• ClinVar RCV Id: RCV004522547
• MyVariant Identifiers: chr3:g.123366184C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123647337C>T , CM000665.2:g.123647337C>T	GRCh38
NC_000003.11:g.123366184C>T , CM000665.1:g.123366184C>T	GRCh37
NC_000003.10:g.124848874C>T	NCBI36
NG_029111.1:g.241966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4299G>A	ENSP00000320622.6:p.Glu1433=
ENST00000508240.2:c.906G>A	ENSP00000422984.2:p.Glu302=
ENST00000513111.2:n.636G>A
ENST00000684879.1:n.2138G>A
ENST00000685021.1:c.1740G>A	ENSP00000508447.1:p.Glu580=
ENST00000685259.1:c.2025G>A
ENST00000685907.1:n.2287G>A
ENST00000685953.1:c.906G>A	ENSP00000510593.1:p.Glu302=
ENST00000686039.1:c.1890G>A
ENST00000686245.1:c.1623G>A	ENSP00000509313.1:p.Glu541=
ENST00000686406.1:c.4506G>A	ENSP00000509044.1:p.Glu1502=
ENST00000686458.1:n.1008G>A
ENST00000686761.1:c.4506G>A	ENSP00000508758.1:p.Glu1502=
ENST00000686822.1:n.4400G>A
ENST00000687434.1:c.*722G>A	ENSP00000509751.1:n.*722G>A
ENST00000687709.1:n.2561G>A
ENST00000687848.1:c.4536G>A	ENSP00000508761.1:p.Glu1512=
ENST00000688024.1:c.1740G>A	ENSP00000509803.1:p.Glu580=
ENST00000688223.1:c.1649+1634G>A	ENSP00000508935.1:n.1649+1634G>A
ENST00000689868.1:n.2234G>A
ENST00000689918.1:n.581G>A
ENST00000690086.1:n.607G>A
ENST00000690167.1:n.2177G>A
ENST00000690457.1:c.3744G>A	ENSP00000508777.1:p.Glu1248=
ENST00000690534.1:n.1027G>A
ENST00000691933.1:c.2130G>A
ENST00000692352.1:c.2044G>A
ENST00000693689.1:c.4299G>A	ENSP00000510503.1:p.Glu1433=
ENST00000360304.8:c.4506G>A MANE Select	ENSP00000353452.3:p.Glu1502=
ENST00000346322.9:c.4299G>A	ENSP00000320622.5:p.Glu1433=
ENST00000354792.9:c.4299G>A	ENSP00000346846.6:p.Glu1433=
ENST00000359169.5:c.4506G>A	ENSP00000352088.1:p.Glu1502=
ENST00000360304.7:c.4506G>A	ENSP00000353452.3:p.Glu1502=
ENST00000360772.7:c.4506G>A	ENSP00000354004.3:p.Glu1502=
ENST00000464489.5:c.*4085G>A	ENSP00000417798.1:n.*4085G>A
ENST00000475616.5:c.4506G>A	ENSP00000418335.1:p.Glu1502=
ENST00000513111.1:n.218G>A
ENST00000514895.5:n.94+1634G>A
NM_053025.3:c.4506G>A	NP_444253.3:p.Glu1502=
NM_053026.3:c.4299G>A	NP_444254.3:p.Glu1433=
NM_053027.3:c.4506G>A	NP_444255.3:p.Glu1502=
NM_053028.3:c.4299G>A	NP_444256.3:p.Glu1433=
XM_011512860.1:c.4506G>A	XP_011511162.1:p.Glu1502=
XM_011512861.1:c.4415+1634G>A	XP_011511163.1:n.4415+1634G>A
XM_011512862.1:c.3978G>A	XP_011511164.1:p.Glu1326=
NM_001321309.1:c.3978G>A	NP_001308238.1:p.Glu1326=
XM_011512860.3:c.4536G>A	XP_011511162.2:p.Glu1512=
XM_011512861.3:c.4445+1634G>A	XP_011511163.2:n.4445+1634G>A
XM_017006469.2:c.1740G>A	XP_016861958.1:p.Glu580=
XM_017006470.2:c.906G>A	XP_016861959.1:p.Glu302=
XM_017006471.2:c.906G>A	XP_016861960.1:p.Glu302=
XM_024453532.1:c.4536G>A	XP_024309300.1:p.Glu1512=
XM_024453533.1:c.4506G>A	XP_024309301.1:p.Glu1502=
XM_024453534.1:c.4329G>A	XP_024309302.1:p.Glu1443=
XM_024453535.1:c.4299G>A	XP_024309303.1:p.Glu1433=
XM_024453536.1:c.4506G>A	XP_024309304.1:p.Glu1502=
XM_024453537.1:c.4506G>A	XP_024309305.1:p.Glu1502=
NM_001321309.2:c.3978G>A	NP_001308238.1:p.Glu1326=
NM_053025.4:c.4506G>A MANE Select	NP_444253.3:p.Glu1502=
NM_053026.4:c.4299G>A	NP_444254.3:p.Glu1433=
NM_053027.4:c.4506G>A	NP_444255.3:p.Glu1502=
NM_053028.4:c.4299G>A	NP_444256.3:p.Glu1433=