Canonical Allele Identifier: CA257134

Gene: MYH11

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15748092C>T , CM000678.2:g.15748092C>T	GRCh38
NC_000016.9:g.15841949C>T , CM000678.1:g.15841949C>T	GRCh37
NC_000016.8:g.15749450C>T	NCBI36
NG_009299.1:g.113939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.2135G>A MANE Select	ENSP00000300036.5:p.Arg712Gln
ENST00000452625.7:c.2156G>A MANE Plus Clinical	ENSP00000407821.2:p.Arg719Gln
ENST00000576790.7:c.2135G>A	ENSP00000458731.1:p.Arg712Gln
ENST00000652121.1:c.*318G>A	ENSP00000498314.1:n.*318G>A
ENST00000300036.5:c.2135G>A	ENSP00000300036.5:p.Arg712Gln
ENST00000396324.7:c.2156G>A	ENSP00000379616.3:p.Arg719Gln
ENST00000452625.6:c.2156G>A	ENSP00000407821.2:p.Arg719Gln
ENST00000576790.6:c.2135G>A	ENSP00000458731.1:p.Arg712Gln
ENST00000616439.4:c.2156G>A	ENSP00000484924.1:p.Arg719Gln
NM_001040113.1:c.2156G>A	NP_001035202.1:p.Arg719Gln
NM_001040114.1:c.2156G>A	NP_001035203.1:p.Arg719Gln
NM_002474.2:c.2135G>A	NP_002465.1:p.Arg712Gln
NM_022844.2:c.2135G>A	NP_074035.1:p.Arg712Gln
XM_011522502.1:c.2135G>A	XP_011520804.1:p.Arg712Gln
XM_011522502.2:c.2135G>A	XP_011520804.1:p.Arg712Gln
XM_017023250.1:c.2156G>A	XP_016878739.1:p.Arg719Gln
NM_002474.3:c.2135G>A MANE Select	NP_002465.1:p.Arg712Gln
NM_001040113.2:c.2156G>A MANE Plus Clinical	NP_001035202.1:p.Arg719Gln
NM_001040114.2:c.2156G>A	NP_001035203.1:p.Arg719Gln
NM_022844.3:c.2135G>A	NP_074035.1:p.Arg712Gln