Canonical Allele Identifier: CA11375574
Gene: MYLK HGNC NCBI

Linked Data

ClinVar Variation Id: 1168972
ClinVar RCV Id: RCV001519673
dbSNP Id: rs820336
gnomAD v2: 3-123415781-C-T
gnomAD v3: 3-123696934-C-T
gnomAD v4: 3-123696934-C-T
MyVariant Identifiers: chr3:g.123415781C>T (hg19) chr3:g.123696934C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123696934C>T , CM000665.2:g.123696934C>T GRCh38
NC_000003.11:g.123415781C>T , CM000665.1:g.123415781C>T GRCh37
NC_000003.10:g.124898471C>T NCBI36
NG_029111.1:g.192369G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000346322.10:c.3241+3086G>A ENSP00000320622.6:n.3241+3086G>A
ENST00000504946.6:c.1058+3086G>A
ENST00000684879.1:n.1080+3086G>A
ENST00000685021.1:c.682+3086G>A ENSP00000508447.1:n.682+3086G>A
ENST00000685259.1:c.986+3086G>A
ENST00000685907.1:n.1229+3086G>A
ENST00000686039.1:c.986+3086G>A
ENST00000686245.1:c.682+3086G>A ENSP00000509313.1:n.682+3086G>A
ENST00000686406.1:c.3448+3086G>A ENSP00000509044.1:n.3448+3086G>A
ENST00000686761.1:c.3448+3086G>A ENSP00000508758.1:n.3448+3086G>A
ENST00000686822.1:n.3342+3086G>A
ENST00000687709.1:n.713+3086G>A
ENST00000687848.1:c.3478+3086G>A ENSP00000508761.1:n.3478+3086G>A
ENST00000688024.1:c.682+3086G>A ENSP00000509803.1:n.682+3086G>A
ENST00000688223.1:c.682+3086G>A ENSP00000508935.1:n.682+3086G>A
ENST00000689227.1:c.986+3086G>A
ENST00000689868.1:n.1176+3086G>A
ENST00000690167.1:n.1119+3086G>A
ENST00000690457.1:c.2686+3086G>A ENSP00000508777.1:n.2686+3086G>A
ENST00000691933.1:c.986+3086G>A
ENST00000692352.1:c.986+3086G>A
ENST00000693689.1:c.3241+3086G>A ENSP00000510503.1:n.3241+3086G>A
ENST00000360304.8:c.3448+3086G>A MANE Select ENSP00000353452.3:n.3448+3086G>A
ENST00000346322.9:c.3241+3086G>A ENSP00000320622.5:n.3241+3086G>A
ENST00000354792.9:c.3241+3086G>A ENSP00000346846.6:n.3241+3086G>A
ENST00000359169.5:c.3448+3086G>A ENSP00000352088.1:n.3448+3086G>A
ENST00000360304.7:c.3448+3086G>A ENSP00000353452.3:n.3448+3086G>A
ENST00000360772.7:c.3448+3086G>A ENSP00000354004.3:n.3448+3086G>A
ENST00000464489.5:c.*3027+3086G>A ENSP00000417798.1:n.*3027+3086G>A
ENST00000475616.5:c.3448+3086G>A ENSP00000418335.1:n.3448+3086G>A
ENST00000504946.5:n.1006+3086G>A
ENST00000510775.5:n.166+1875G>A
NM_053025.3:c.3448+3086G>A NP_444253.3:n.3448+3086G>A
NM_053026.3:c.3241+3086G>A NP_444254.3:n.3241+3086G>A
NM_053027.3:c.3448+3086G>A NP_444255.3:n.3448+3086G>A
NM_053028.3:c.3241+3086G>A NP_444256.3:n.3241+3086G>A
XM_011512860.1:c.3448+3086G>A XP_011511162.1:n.3448+3086G>A
XM_011512861.1:c.3448+3086G>A XP_011511163.1:n.3448+3086G>A
XM_011512862.1:c.2920+3086G>A XP_011511164.1:n.2920+3086G>A
XR_241556.2:n.89+4012C>T
XR_924416.1:n.89+4012C>T
XR_924417.1:n.82+4012C>T
NM_001321309.1:c.2920+3086G>A NP_001308238.1:n.2920+3086G>A
XM_011512860.3:c.3478+3086G>A XP_011511162.2:n.3478+3086G>A
XM_011512861.3:c.3478+3086G>A XP_011511163.2:n.3478+3086G>A
XM_017006469.2:c.682+3086G>A XP_016861958.1:n.682+3086G>A
XM_024453532.1:c.3478+3086G>A XP_024309300.1:n.3478+3086G>A
XM_024453533.1:c.3448+3086G>A XP_024309301.1:n.3448+3086G>A
XM_024453534.1:c.3271+3086G>A XP_024309302.1:n.3271+3086G>A
XM_024453535.1:c.3241+3086G>A XP_024309303.1:n.3241+3086G>A
XM_024453536.1:c.3448+3086G>A XP_024309304.1:n.3448+3086G>A
XM_024453537.1:c.3448+3086G>A XP_024309305.1:n.3448+3086G>A
XR_002959642.1:n.87+4012C>T
XR_002959643.1:n.87+4012C>T
XR_002959644.1:n.87+4012C>T
XR_924417.3:n.107+4012C>T
NM_001321309.2:c.2920+3086G>A NP_001308238.1:n.2920+3086G>A
NM_053025.4:c.3448+3086G>A MANE Select NP_444253.3:n.3448+3086G>A
NM_053026.4:c.3241+3086G>A NP_444254.3:n.3241+3086G>A
NM_053027.4:c.3448+3086G>A NP_444255.3:n.3448+3086G>A
NM_053028.4:c.3241+3086G>A NP_444256.3:n.3241+3086G>A
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