Canonical Allele Identifier: CA435302682
Gene: MYLK HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.123411598G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123692751G>A , CM000665.2:g.123692751G>A GRCh38
NC_000003.11:g.123411598G>A , CM000665.1:g.123411598G>A GRCh37
NC_000003.10:g.124894288G>A NCBI36
NG_029111.1:g.196552C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.3342C>T ENSP00000320622.6:p.Cys1114=
ENST00000504946.6:c.1159C>T
ENST00000684879.1:n.1181C>T
ENST00000685021.1:c.783C>T ENSP00000508447.1:p.Cys261=
ENST00000685259.1:c.1087C>T
ENST00000685907.1:n.1330C>T
ENST00000686039.1:c.1087C>T
ENST00000686245.1:c.682+7269C>T ENSP00000509313.1:n.682+7269C>T
ENST00000686406.1:c.3549C>T ENSP00000509044.1:p.Cys1183=
ENST00000686761.1:c.3549C>T ENSP00000508758.1:p.Cys1183=
ENST00000686822.1:n.3443C>T
ENST00000687709.1:n.814C>T
ENST00000687848.1:c.3579C>T ENSP00000508761.1:p.Cys1193=
ENST00000688024.1:c.783C>T ENSP00000509803.1:p.Cys261=
ENST00000688223.1:c.783C>T ENSP00000508935.1:p.Cys261=
ENST00000689227.1:c.1222C>T
ENST00000689868.1:n.1277C>T
ENST00000690167.1:n.1220C>T
ENST00000690457.1:c.2787C>T ENSP00000508777.1:p.Cys929=
ENST00000691933.1:c.1087C>T
ENST00000692352.1:c.1087C>T
ENST00000693689.1:c.3342C>T ENSP00000510503.1:p.Cys1114=
ENST00000360304.8:c.3549C>T MANE Select ENSP00000353452.3:p.Cys1183=
ENST00000346322.9:c.3342C>T ENSP00000320622.5:p.Cys1114=
ENST00000354792.9:c.3342C>T ENSP00000346846.6:p.Cys1114=
ENST00000359169.5:c.3549C>T ENSP00000352088.1:p.Cys1183=
ENST00000360304.7:c.3549C>T ENSP00000353452.3:p.Cys1183=
ENST00000360772.7:c.3549C>T ENSP00000354004.3:p.Cys1183=
ENST00000464489.5:c.*3128C>T ENSP00000417798.1:n.*3128C>T
ENST00000475616.5:c.3549C>T ENSP00000418335.1:p.Cys1183=
ENST00000503644.1:n.218C>T
ENST00000504946.5:n.1107C>T
ENST00000510775.5:n.267C>T
NM_053025.3:c.3549C>T NP_444253.3:p.Cys1183=
NM_053026.3:c.3342C>T NP_444254.3:p.Cys1114=
NM_053027.3:c.3549C>T NP_444255.3:p.Cys1183=
NM_053028.3:c.3342C>T NP_444256.3:p.Cys1114=
XM_011512860.1:c.3549C>T XP_011511162.1:p.Cys1183=
XM_011512861.1:c.3549C>T XP_011511163.1:p.Cys1183=
XM_011512862.1:c.3021C>T XP_011511164.1:p.Cys1007=
NM_001321309.1:c.3021C>T NP_001308238.1:p.Cys1007=
XM_011512860.3:c.3579C>T XP_011511162.2:p.Cys1193=
XM_011512861.3:c.3579C>T XP_011511163.2:p.Cys1193=
XM_017006469.2:c.783C>T XP_016861958.1:p.Cys261=
XM_024453532.1:c.3579C>T XP_024309300.1:p.Cys1193=
XM_024453533.1:c.3549C>T XP_024309301.1:p.Cys1183=
XM_024453534.1:c.3372C>T XP_024309302.1:p.Cys1124=
XM_024453535.1:c.3342C>T XP_024309303.1:p.Cys1114=
XM_024453536.1:c.3549C>T XP_024309304.1:p.Cys1183=
XM_024453537.1:c.3549C>T XP_024309305.1:p.Cys1183=
NM_001321309.2:c.3021C>T NP_001308238.1:p.Cys1007=
NM_053025.4:c.3549C>T MANE Select NP_444253.3:p.Cys1183=
NM_053026.4:c.3342C>T NP_444254.3:p.Cys1114=
NM_053027.4:c.3549C>T NP_444255.3:p.Cys1183=
NM_053028.4:c.3342C>T NP_444256.3:p.Cys1114=