Canonical Allele Identifier: CA354227288

Gene: MYLK

Linked Data

• ClinVar Variation Id: 2284114
• ClinVar RCV Id: RCV004136452
• gnomAD v4: 3-123647375-A-G
• MyVariant Identifiers: chr3:g.123366222A>G (hg19) ; chr3:g.123647375A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123647375A>G , CM000665.2:g.123647375A>G	GRCh38
NC_000003.11:g.123366222A>G , CM000665.1:g.123366222A>G	GRCh37
NC_000003.10:g.124848912A>G	NCBI36
NG_029111.1:g.241928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4261T>C	ENSP00000320622.6:p.Trp1421Arg
ENST00000508240.2:c.868T>C	ENSP00000422984.2:p.Trp290Arg
ENST00000513111.2:n.598T>C
ENST00000684879.1:n.2100T>C
ENST00000685021.1:c.1702T>C	ENSP00000508447.1:p.Trp568Arg
ENST00000685259.1:c.1987T>C
ENST00000685907.1:n.2249T>C
ENST00000685953.1:c.868T>C	ENSP00000510593.1:p.Trp290Arg
ENST00000686039.1:c.1852T>C
ENST00000686245.1:c.1585T>C	ENSP00000509313.1:p.Trp529Arg
ENST00000686406.1:c.4468T>C	ENSP00000509044.1:p.Trp1490Arg
ENST00000686458.1:n.970T>C
ENST00000686761.1:c.4468T>C	ENSP00000508758.1:p.Trp1490Arg
ENST00000686822.1:n.4362T>C
ENST00000687434.1:c.*684T>C	ENSP00000509751.1:n.*684T>C
ENST00000687709.1:n.2523T>C
ENST00000687848.1:c.4498T>C	ENSP00000508761.1:p.Trp1500Arg
ENST00000688024.1:c.1702T>C	ENSP00000509803.1:p.Trp568Arg
ENST00000688223.1:c.1649+1596T>C	ENSP00000508935.1:n.1649+1596T>C
ENST00000689868.1:n.2196T>C
ENST00000689918.1:n.543T>C
ENST00000690086.1:n.569T>C
ENST00000690167.1:n.2139T>C
ENST00000690457.1:c.3706T>C	ENSP00000508777.1:p.Trp1236Arg
ENST00000690534.1:n.989T>C
ENST00000691933.1:c.2092T>C
ENST00000692352.1:c.2006T>C
ENST00000693689.1:c.4261T>C	ENSP00000510503.1:p.Trp1421Arg
ENST00000360304.8:c.4468T>C MANE Select	ENSP00000353452.3:p.Trp1490Arg
ENST00000346322.9:c.4261T>C	ENSP00000320622.5:p.Trp1421Arg
ENST00000354792.9:c.4261T>C	ENSP00000346846.6:p.Trp1421Arg
ENST00000359169.5:c.4468T>C	ENSP00000352088.1:p.Trp1490Arg
ENST00000360304.7:c.4468T>C	ENSP00000353452.3:p.Trp1490Arg
ENST00000360772.7:c.4468T>C	ENSP00000354004.3:p.Trp1490Arg
ENST00000464489.5:c.*4047T>C	ENSP00000417798.1:n.*4047T>C
ENST00000475616.5:c.4468T>C	ENSP00000418335.1:p.Trp1490Arg
ENST00000513111.1:n.180T>C
ENST00000514895.5:n.94+1596T>C
NM_053025.3:c.4468T>C	NP_444253.3:p.Trp1490Arg
NM_053026.3:c.4261T>C	NP_444254.3:p.Trp1421Arg
NM_053027.3:c.4468T>C	NP_444255.3:p.Trp1490Arg
NM_053028.3:c.4261T>C	NP_444256.3:p.Trp1421Arg
XM_011512860.1:c.4468T>C	XP_011511162.1:p.Trp1490Arg
XM_011512861.1:c.4415+1596T>C	XP_011511163.1:n.4415+1596T>C
XM_011512862.1:c.3940T>C	XP_011511164.1:p.Trp1314Arg
NM_001321309.1:c.3940T>C	NP_001308238.1:p.Trp1314Arg
XM_011512860.3:c.4498T>C	XP_011511162.2:p.Trp1500Arg
XM_011512861.3:c.4445+1596T>C	XP_011511163.2:n.4445+1596T>C
XM_017006469.2:c.1702T>C	XP_016861958.1:p.Trp568Arg
XM_017006470.2:c.868T>C	XP_016861959.1:p.Trp290Arg
XM_017006471.2:c.868T>C	XP_016861960.1:p.Trp290Arg
XM_024453532.1:c.4498T>C	XP_024309300.1:p.Trp1500Arg
XM_024453533.1:c.4468T>C	XP_024309301.1:p.Trp1490Arg
XM_024453534.1:c.4291T>C	XP_024309302.1:p.Trp1431Arg
XM_024453535.1:c.4261T>C	XP_024309303.1:p.Trp1421Arg
XM_024453536.1:c.4468T>C	XP_024309304.1:p.Trp1490Arg
XM_024453537.1:c.4468T>C	XP_024309305.1:p.Trp1490Arg
NM_001321309.2:c.3940T>C	NP_001308238.1:p.Trp1314Arg
NM_053025.4:c.4468T>C MANE Select	NP_444253.3:p.Trp1490Arg
NM_053026.4:c.4261T>C	NP_444254.3:p.Trp1421Arg
NM_053027.4:c.4468T>C	NP_444255.3:p.Trp1490Arg
NM_053028.4:c.4261T>C	NP_444256.3:p.Trp1421Arg