Canonical Allele Identifier: CA354234814

Gene: MYLK

Linked Data

• MyVariant Identifiers: chr3:g.123411593A>G (hg19) ; chr3:g.123692746A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123692746A>G , CM000665.2:g.123692746A>G	GRCh38
NC_000003.11:g.123411593A>G , CM000665.1:g.123411593A>G	GRCh37
NC_000003.10:g.124894283A>G	NCBI36
NG_029111.1:g.196557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.3347T>C	ENSP00000320622.6:p.Val1116Ala
ENST00000504946.6:c.1164T>C
ENST00000684879.1:n.1186T>C
ENST00000685021.1:c.788T>C	ENSP00000508447.1:p.Val263Ala
ENST00000685259.1:c.1092T>C
ENST00000685907.1:n.1335T>C
ENST00000686039.1:c.1092T>C
ENST00000686245.1:c.682+7274T>C	ENSP00000509313.1:n.682+7274T>C
ENST00000686406.1:c.3554T>C	ENSP00000509044.1:p.Val1185Ala
ENST00000686761.1:c.3554T>C	ENSP00000508758.1:p.Val1185Ala
ENST00000686822.1:n.3448T>C
ENST00000687709.1:n.819T>C
ENST00000687848.1:c.3584T>C	ENSP00000508761.1:p.Val1195Ala
ENST00000688024.1:c.788T>C	ENSP00000509803.1:p.Val263Ala
ENST00000688223.1:c.788T>C	ENSP00000508935.1:p.Val263Ala
ENST00000689227.1:c.1227T>C
ENST00000689868.1:n.1282T>C
ENST00000690167.1:n.1225T>C
ENST00000690457.1:c.2792T>C	ENSP00000508777.1:p.Val931Ala
ENST00000691933.1:c.1092T>C
ENST00000692352.1:c.1092T>C
ENST00000693689.1:c.3347T>C	ENSP00000510503.1:p.Val1116Ala
ENST00000360304.8:c.3554T>C MANE Select	ENSP00000353452.3:p.Val1185Ala
ENST00000346322.9:c.3347T>C	ENSP00000320622.5:p.Val1116Ala
ENST00000354792.9:c.3347T>C	ENSP00000346846.6:p.Val1116Ala
ENST00000359169.5:c.3554T>C	ENSP00000352088.1:p.Val1185Ala
ENST00000360304.7:c.3554T>C	ENSP00000353452.3:p.Val1185Ala
ENST00000360772.7:c.3554T>C	ENSP00000354004.3:p.Val1185Ala
ENST00000464489.5:c.*3133T>C	ENSP00000417798.1:n.*3133T>C
ENST00000475616.5:c.3554T>C	ENSP00000418335.1:p.Val1185Ala
ENST00000503644.1:n.223T>C
ENST00000504946.5:n.1112T>C
ENST00000510775.5:n.272T>C
NM_053025.3:c.3554T>C	NP_444253.3:p.Val1185Ala
NM_053026.3:c.3347T>C	NP_444254.3:p.Val1116Ala
NM_053027.3:c.3554T>C	NP_444255.3:p.Val1185Ala
NM_053028.3:c.3347T>C	NP_444256.3:p.Val1116Ala
XM_011512860.1:c.3554T>C	XP_011511162.1:p.Val1185Ala
XM_011512861.1:c.3554T>C	XP_011511163.1:p.Val1185Ala
XM_011512862.1:c.3026T>C	XP_011511164.1:p.Val1009Ala
NM_001321309.1:c.3026T>C	NP_001308238.1:p.Val1009Ala
XM_011512860.3:c.3584T>C	XP_011511162.2:p.Val1195Ala
XM_011512861.3:c.3584T>C	XP_011511163.2:p.Val1195Ala
XM_017006469.2:c.788T>C	XP_016861958.1:p.Val263Ala
XM_024453532.1:c.3584T>C	XP_024309300.1:p.Val1195Ala
XM_024453533.1:c.3554T>C	XP_024309301.1:p.Val1185Ala
XM_024453534.1:c.3377T>C	XP_024309302.1:p.Val1126Ala
XM_024453535.1:c.3347T>C	XP_024309303.1:p.Val1116Ala
XM_024453536.1:c.3554T>C	XP_024309304.1:p.Val1185Ala
XM_024453537.1:c.3554T>C	XP_024309305.1:p.Val1185Ala
NM_001321309.2:c.3026T>C	NP_001308238.1:p.Val1009Ala
NM_053025.4:c.3554T>C MANE Select	NP_444253.3:p.Val1185Ala
NM_053026.4:c.3347T>C	NP_444254.3:p.Val1116Ala
NM_053027.4:c.3554T>C	NP_444255.3:p.Val1185Ala
NM_053028.4:c.3347T>C	NP_444256.3:p.Val1116Ala