Canonical Allele Identifier: CA394869233

Gene: MYH11

Linked Data

• ClinVar Variation Id: 3070695
• ClinVar RCV Id: RCV004013205
• MyVariant Identifiers: chr16:g.15844185T>A (hg19) ; chr16:g.15750328T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15750328T>A , CM000678.2:g.15750328T>A	GRCh38
NC_000016.9:g.15844185T>A , CM000678.1:g.15844185T>A	GRCh37
NC_000016.8:g.15751686T>A	NCBI36
NG_009299.1:g.111703A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.1868A>T MANE Select	ENSP00000300036.5:p.Asp623Val
ENST00000452625.7:c.1889A>T MANE Plus Clinical	ENSP00000407821.2:p.Asp630Val
ENST00000576790.7:c.1868A>T	ENSP00000458731.1:p.Asp623Val
ENST00000652121.1:c.*51A>T	ENSP00000498314.1:n.*51A>T
ENST00000300036.5:c.1868A>T	ENSP00000300036.5:p.Asp623Val
ENST00000396324.7:c.1889A>T	ENSP00000379616.3:p.Asp630Val
ENST00000452625.6:c.1889A>T	ENSP00000407821.2:p.Asp630Val
ENST00000570785.1:n.2290A>T
ENST00000576790.6:c.1868A>T	ENSP00000458731.1:p.Asp623Val
ENST00000616439.4:c.1889A>T	ENSP00000484924.1:p.Asp630Val
NM_001040113.1:c.1889A>T	NP_001035202.1:p.Asp630Val
NM_001040114.1:c.1889A>T	NP_001035203.1:p.Asp630Val
NM_002474.2:c.1868A>T	NP_002465.1:p.Asp623Val
NM_022844.2:c.1868A>T	NP_074035.1:p.Asp623Val
XM_011522502.1:c.1868A>T	XP_011520804.1:p.Asp623Val
XM_011522502.2:c.1868A>T	XP_011520804.1:p.Asp623Val
XM_017023250.1:c.1889A>T	XP_016878739.1:p.Asp630Val
NM_002474.3:c.1868A>T MANE Select	NP_002465.1:p.Asp623Val
NM_001040113.2:c.1889A>T MANE Plus Clinical	NP_001035202.1:p.Asp630Val
NM_001040114.2:c.1889A>T	NP_001035203.1:p.Asp630Val
NM_022844.3:c.1868A>T	NP_074035.1:p.Asp623Val