Canonical Allele Identifier: CA394869122

Gene: MYH11

Linked Data

• ClinVar Variation Id: 3072191
• ClinVar RCV Id: RCV004012221
• MyVariant Identifiers: chr16:g.15844132T>C (hg19) ; chr16:g.15750275T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15750275T>C , CM000678.2:g.15750275T>C	GRCh38
NC_000016.9:g.15844132T>C , CM000678.1:g.15844132T>C	GRCh37
NC_000016.8:g.15751633T>C	NCBI36
NG_009299.1:g.111756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.1921A>G MANE Select	ENSP00000300036.5:p.Ser641Gly
ENST00000452625.7:c.1942A>G MANE Plus Clinical	ENSP00000407821.2:p.Ser648Gly
ENST00000576790.7:c.1921A>G	ENSP00000458731.1:p.Ser641Gly
ENST00000652121.1:c.*104A>G	ENSP00000498314.1:n.*104A>G
ENST00000300036.5:c.1921A>G	ENSP00000300036.5:p.Ser641Gly
ENST00000396324.7:c.1942A>G	ENSP00000379616.3:p.Ser648Gly
ENST00000452625.6:c.1942A>G	ENSP00000407821.2:p.Ser648Gly
ENST00000570785.1:n.2343A>G
ENST00000576790.6:c.1921A>G	ENSP00000458731.1:p.Ser641Gly
ENST00000616439.4:c.1942A>G	ENSP00000484924.1:p.Ser648Gly
NM_001040113.1:c.1942A>G	NP_001035202.1:p.Ser648Gly
NM_001040114.1:c.1942A>G	NP_001035203.1:p.Ser648Gly
NM_002474.2:c.1921A>G	NP_002465.1:p.Ser641Gly
NM_022844.2:c.1921A>G	NP_074035.1:p.Ser641Gly
XM_011522502.1:c.1921A>G	XP_011520804.1:p.Ser641Gly
XM_011522502.2:c.1921A>G	XP_011520804.1:p.Ser641Gly
XM_017023250.1:c.1942A>G	XP_016878739.1:p.Ser648Gly
NM_002474.3:c.1921A>G MANE Select	NP_002465.1:p.Ser641Gly
NM_001040113.2:c.1942A>G MANE Plus Clinical	NP_001035202.1:p.Ser648Gly
NM_001040114.2:c.1942A>G	NP_001035203.1:p.Ser648Gly
NM_022844.3:c.1921A>G	NP_074035.1:p.Ser641Gly