Canonical Allele Identifier: CA10587551

Gene: MYLK

Linked Data

• ClinVar Variation Id: 264262
• ClinVar RCV Id: RCV002311117
• dbSNP Id: rs574296889
• gnomAD v2: 3-123366170-C-T
• gnomAD v3: 3-123647323-C-T
• gnomAD v4: 3-123647323-C-T
• COSMIC: COSM3784291
• MyVariant Identifiers: chr3:g.123366170C>T (hg19) ; chr3:g.123647323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123647323C>T , CM000665.2:g.123647323C>T	GRCh38
NC_000003.11:g.123366170C>T , CM000665.1:g.123366170C>T	GRCh37
NC_000003.10:g.124848860C>T	NCBI36
NG_029111.1:g.241980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4313G>A	ENSP00000320622.6:p.Arg1438Gln
ENST00000508240.2:c.920G>A	ENSP00000422984.2:p.Arg307Gln
ENST00000513111.2:n.650G>A
ENST00000684879.1:n.2152G>A
ENST00000685021.1:c.1754G>A	ENSP00000508447.1:p.Arg585Gln
ENST00000685259.1:c.2039G>A
ENST00000685907.1:n.2301G>A
ENST00000685953.1:c.920G>A	ENSP00000510593.1:p.Arg307Gln
ENST00000686039.1:c.1904G>A
ENST00000686245.1:c.1637G>A	ENSP00000509313.1:p.Arg546Gln
ENST00000686406.1:c.4520G>A	ENSP00000509044.1:p.Arg1507Gln
ENST00000686458.1:n.1022G>A
ENST00000686761.1:c.4520G>A	ENSP00000508758.1:p.Arg1507Gln
ENST00000686822.1:n.4414G>A
ENST00000687434.1:c.*736G>A	ENSP00000509751.1:n.*736G>A
ENST00000687709.1:n.2575G>A
ENST00000687848.1:c.4550G>A	ENSP00000508761.1:p.Arg1517Gln
ENST00000688024.1:c.1754G>A	ENSP00000509803.1:p.Arg585Gln
ENST00000688223.1:c.1649+1648G>A	ENSP00000508935.1:n.1649+1648G>A
ENST00000689868.1:n.2248G>A
ENST00000689918.1:n.595G>A
ENST00000690086.1:n.621G>A
ENST00000690167.1:n.2191G>A
ENST00000690457.1:c.3758G>A	ENSP00000508777.1:p.Arg1253Gln
ENST00000690534.1:n.1041G>A
ENST00000691933.1:c.2144G>A
ENST00000692352.1:c.2058G>A
ENST00000693689.1:c.4313G>A	ENSP00000510503.1:p.Arg1438Gln
ENST00000360304.8:c.4520G>A MANE Select	ENSP00000353452.3:p.Arg1507Gln
ENST00000346322.9:c.4313G>A	ENSP00000320622.5:p.Arg1438Gln
ENST00000354792.9:c.4313G>A	ENSP00000346846.6:p.Arg1438Gln
ENST00000359169.5:c.4520G>A	ENSP00000352088.1:p.Arg1507Gln
ENST00000360304.7:c.4520G>A	ENSP00000353452.3:p.Arg1507Gln
ENST00000360772.7:c.4520G>A	ENSP00000354004.3:p.Arg1507Gln
ENST00000464489.5:c.*4099G>A	ENSP00000417798.1:n.*4099G>A
ENST00000475616.5:c.4520G>A	ENSP00000418335.1:p.Arg1507Gln
ENST00000513111.1:n.232G>A
ENST00000514895.5:n.94+1648G>A
NM_053025.3:c.4520G>A	NP_444253.3:p.Arg1507Gln
NM_053026.3:c.4313G>A	NP_444254.3:p.Arg1438Gln
NM_053027.3:c.4520G>A	NP_444255.3:p.Arg1507Gln
NM_053028.3:c.4313G>A	NP_444256.3:p.Arg1438Gln
XM_011512860.1:c.4520G>A	XP_011511162.1:p.Arg1507Gln
XM_011512861.1:c.4415+1648G>A	XP_011511163.1:n.4415+1648G>A
XM_011512862.1:c.3992G>A	XP_011511164.1:p.Arg1331Gln
NM_001321309.1:c.3992G>A	NP_001308238.1:p.Arg1331Gln
XM_011512860.3:c.4550G>A	XP_011511162.2:p.Arg1517Gln
XM_011512861.3:c.4445+1648G>A	XP_011511163.2:n.4445+1648G>A
XM_017006469.2:c.1754G>A	XP_016861958.1:p.Arg585Gln
XM_017006470.2:c.920G>A	XP_016861959.1:p.Arg307Gln
XM_017006471.2:c.920G>A	XP_016861960.1:p.Arg307Gln
XM_024453532.1:c.4550G>A	XP_024309300.1:p.Arg1517Gln
XM_024453533.1:c.4520G>A	XP_024309301.1:p.Arg1507Gln
XM_024453534.1:c.4343G>A	XP_024309302.1:p.Arg1448Gln
XM_024453535.1:c.4313G>A	XP_024309303.1:p.Arg1438Gln
XM_024453536.1:c.4520G>A	XP_024309304.1:p.Arg1507Gln
XM_024453537.1:c.4520G>A	XP_024309305.1:p.Arg1507Gln
NM_001321309.2:c.3992G>A	NP_001308238.1:p.Arg1331Gln
NM_053025.4:c.4520G>A MANE Select	NP_444253.3:p.Arg1507Gln
NM_053026.4:c.4313G>A	NP_444254.3:p.Arg1438Gln
NM_053027.4:c.4520G>A	NP_444255.3:p.Arg1507Gln
NM_053028.4:c.4313G>A	NP_444256.3:p.Arg1438Gln