Canonical Allele Identifier: CA7922772
Community Standard Title: NM_002474.3(MYH11):c.935A>G (p.Asn312Ser)
Gene: MYH11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15771667T>C , CM000678.2:g.15771667T>C GRCh38
NC_000016.9:g.15865524T>C , CM000678.1:g.15865524T>C GRCh37
NC_000016.8:g.15773025T>C NCBI36
NG_009299.1:g.90364A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002474.3:c.935A>G MANE Select NP_002465.1:p.Asn312Ser
ENST00000300036.6:c.935A>G MANE Select ENSP00000300036.5:p.Asn312Ser
NM_001040113.2:c.956A>G MANE Plus Clinical NP_001035202.1:p.Asn319Ser
ENST00000452625.7:c.956A>G MANE Plus Clinical ENSP00000407821.2:p.Asn319Ser
NM_001040113.1:c.956A>G NP_001035202.1:p.Asn319Ser
NM_001040114.1:c.956A>G NP_001035203.1:p.Asn319Ser
NM_001040114.2:c.956A>G NP_001035203.1:p.Asn319Ser
NM_002474.2:c.935A>G NP_002465.1:p.Asn312Ser
NM_022844.2:c.935A>G NP_074035.1:p.Asn312Ser
NM_022844.3:c.935A>G NP_074035.1:p.Asn312Ser
ENST00000300036.5:c.935A>G ENSP00000300036.5:p.Asn312Ser
ENST00000396324.7:c.956A>G ENSP00000379616.3:p.Asn319Ser
ENST00000452625.6:c.956A>G ENSP00000407821.2:p.Asn319Ser
ENST00000570785.1:n.1357A>G
ENST00000576790.6:c.935A>G ENSP00000458731.1:p.Asn312Ser
ENST00000576790.7:c.935A>G ENSP00000458731.1:p.Asn312Ser
ENST00000616439.4:c.956A>G ENSP00000484924.1:p.Asn319Ser
ENST00000652121.1:c.935A>G ENSP00000498314.1:p.Asn312Ser
XM_011522502.1:c.935A>G XP_011520804.1:p.Asn312Ser
XM_011522502.2:c.935A>G XP_011520804.1:p.Asn312Ser
XM_017023250.1:c.956A>G XP_016878739.1:p.Asn319Ser