Canonical Allele Identifier: CA306647
Gene: MYH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 201102
ClinVar RCV Id: RCV000182548
dbSNP Id: rs794728672
MyVariant Identifiers: chr16:g.15869956C>G (hg19) chr16:g.15776099C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15776099C>G , CM000678.2:g.15776099C>G GRCh38
NC_000016.9:g.15869956C>G , CM000678.1:g.15869956C>G GRCh37
NC_000016.8:g.15777457C>G NCBI36
NG_009299.1:g.85932G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300036.6:c.868G>C MANE Select ENSP00000300036.5:p.Gly290Arg
ENST00000452625.7:c.889G>C MANE Plus Clinical ENSP00000407821.2:p.Gly297Arg
ENST00000571910.2:n.252G>C
ENST00000576790.7:c.868G>C ENSP00000458731.1:p.Gly290Arg
ENST00000652121.1:c.868G>C ENSP00000498314.1:p.Gly290Arg
ENST00000300036.5:c.868G>C ENSP00000300036.5:p.Gly290Arg
ENST00000396324.7:c.889G>C ENSP00000379616.3:p.Gly297Arg
ENST00000452625.6:c.889G>C ENSP00000407821.2:p.Gly297Arg
ENST00000570785.1:n.1290G>C
ENST00000571910.1:n.722G>C
ENST00000576790.6:c.868G>C ENSP00000458731.1:p.Gly290Arg
ENST00000616439.4:c.889G>C ENSP00000484924.1:p.Gly297Arg
NM_001040113.1:c.889G>C NP_001035202.1:p.Gly297Arg
NM_001040114.1:c.889G>C NP_001035203.1:p.Gly297Arg
NM_002474.2:c.868G>C NP_002465.1:p.Gly290Arg
NM_022844.2:c.868G>C NP_074035.1:p.Gly290Arg
XM_011522502.1:c.868G>C XP_011520804.1:p.Gly290Arg
XM_011522502.2:c.868G>C XP_011520804.1:p.Gly290Arg
XM_017023250.1:c.889G>C XP_016878739.1:p.Gly297Arg
NM_002474.3:c.868G>C MANE Select NP_002465.1:p.Gly290Arg
NM_001040113.2:c.889G>C MANE Plus Clinical NP_001035202.1:p.Gly297Arg
NM_001040114.2:c.889G>C NP_001035203.1:p.Gly297Arg
NM_022844.3:c.868G>C NP_074035.1:p.Gly290Arg
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