Canonical Allele Identifier: CA16042976

Gene: MYH11

Linked Data

• ClinVar Variation Id: 372955
• ClinVar RCV Id: RCV001186935 ; RCV001796026 ; RCV002481276 ; RCV002523926
• dbSNP Id: rs1050298581
• gnomAD v2: 16-15841541-C-T
• gnomAD v3: 16-15747684-C-T
• gnomAD v4: 16-15747684-C-T
• MyVariant Identifiers: chr16:g.15841541C>T (hg19) ; chr16:g.15747684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15747684C>T , CM000678.2:g.15747684C>T	GRCh38
NC_000016.9:g.15841541C>T , CM000678.1:g.15841541C>T	GRCh37
NC_000016.8:g.15749042C>T	NCBI36
NG_009299.1:g.114347G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300036.6:c.2297G>A MANE Select	ENSP00000300036.5:p.Ser766Asn
ENST00000452625.7:c.2318G>A MANE Plus Clinical	ENSP00000407821.2:p.Ser773Asn
ENST00000576790.7:c.2297G>A	ENSP00000458731.1:p.Ser766Asn
ENST00000652121.1:c.*480G>A	ENSP00000498314.1:n.*480G>A
ENST00000300036.5:c.2297G>A	ENSP00000300036.5:p.Ser766Asn
ENST00000396324.7:c.2318G>A	ENSP00000379616.3:p.Ser773Asn
ENST00000452625.6:c.2318G>A	ENSP00000407821.2:p.Ser773Asn
ENST00000576790.6:c.2297G>A	ENSP00000458731.1:p.Ser766Asn
ENST00000616439.4:c.2318G>A	ENSP00000484924.1:p.Ser773Asn
NM_001040113.1:c.2318G>A	NP_001035202.1:p.Ser773Asn
NM_001040114.1:c.2318G>A	NP_001035203.1:p.Ser773Asn
NM_002474.2:c.2297G>A	NP_002465.1:p.Ser766Asn
NM_022844.2:c.2297G>A	NP_074035.1:p.Ser766Asn
XM_011522502.1:c.2297G>A	XP_011520804.1:p.Ser766Asn
XM_011522502.2:c.2297G>A	XP_011520804.1:p.Ser766Asn
XM_017023250.1:c.2318G>A	XP_016878739.1:p.Ser773Asn
NM_002474.3:c.2297G>A MANE Select	NP_002465.1:p.Ser766Asn
NM_001040113.2:c.2318G>A MANE Plus Clinical	NP_001035202.1:p.Ser773Asn
NM_001040114.2:c.2318G>A	NP_001035203.1:p.Ser773Asn
NM_022844.3:c.2297G>A	NP_074035.1:p.Ser766Asn