Canonical Allele Identifier: CA394868876
Gene: MYH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15750172A>G , CM000678.2:g.15750172A>G GRCh38
NC_000016.9:g.15844029A>G , CM000678.1:g.15844029A>G GRCh37
NC_000016.8:g.15751530A>G NCBI36
NG_009299.1:g.111859T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300036.6:c.2024T>C MANE Select ENSP00000300036.5:p.Phe675Ser
ENST00000452625.7:c.2045T>C MANE Plus Clinical ENSP00000407821.2:p.Phe682Ser
ENST00000576790.7:c.2024T>C ENSP00000458731.1:p.Phe675Ser
ENST00000652121.1:c.*207T>C ENSP00000498314.1:n.*207T>C
ENST00000300036.5:c.2024T>C ENSP00000300036.5:p.Phe675Ser
ENST00000396324.7:c.2045T>C ENSP00000379616.3:p.Phe682Ser
ENST00000452625.6:c.2045T>C ENSP00000407821.2:p.Phe682Ser
ENST00000570785.1:n.2446T>C
ENST00000576790.6:c.2024T>C ENSP00000458731.1:p.Phe675Ser
ENST00000616439.4:c.2045T>C ENSP00000484924.1:p.Phe682Ser
NM_001040113.1:c.2045T>C NP_001035202.1:p.Phe682Ser
NM_001040114.1:c.2045T>C NP_001035203.1:p.Phe682Ser
NM_002474.2:c.2024T>C NP_002465.1:p.Phe675Ser
NM_022844.2:c.2024T>C NP_074035.1:p.Phe675Ser
XM_011522502.1:c.2024T>C XP_011520804.1:p.Phe675Ser
XM_011522502.2:c.2024T>C XP_011520804.1:p.Phe675Ser
XM_017023250.1:c.2045T>C XP_016878739.1:p.Phe682Ser
NM_002474.3:c.2024T>C MANE Select NP_002465.1:p.Phe675Ser
NM_001040113.2:c.2045T>C MANE Plus Clinical NP_001035202.1:p.Phe682Ser
NM_001040114.2:c.2045T>C NP_001035203.1:p.Phe682Ser
NM_022844.3:c.2024T>C NP_074035.1:p.Phe675Ser