Canonical Allele Identifier: CA394868724

Gene: MYH11

Linked Data

• ClinVar Variation Id: 618737
• ClinVar RCV Id: RCV000757518
• dbSNP Id: rs1567726588
• MyVariant Identifiers: chr16:g.15843996C>G (hg19) ; chr16:g.15750139C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15750139C>G , CM000678.2:g.15750139C>G	GRCh38
NC_000016.9:g.15843996C>G , CM000678.1:g.15843996C>G	GRCh37
NC_000016.8:g.15751497C>G	NCBI36
NG_009299.1:g.111892G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.2057G>C MANE Select	ENSP00000300036.5:p.Arg686Thr
ENST00000452625.7:c.2078G>C MANE Plus Clinical	ENSP00000407821.2:p.Arg693Thr
ENST00000576790.7:c.2057G>C	ENSP00000458731.1:p.Arg686Thr
ENST00000652121.1:c.*240G>C	ENSP00000498314.1:n.*240G>C
ENST00000300036.5:c.2057G>C	ENSP00000300036.5:p.Arg686Thr
ENST00000396324.7:c.2078G>C	ENSP00000379616.3:p.Arg693Thr
ENST00000452625.6:c.2078G>C	ENSP00000407821.2:p.Arg693Thr
ENST00000570785.1:n.2479G>C
ENST00000576790.6:c.2057G>C	ENSP00000458731.1:p.Arg686Thr
ENST00000616439.4:c.2078G>C	ENSP00000484924.1:p.Arg693Thr
NM_001040113.1:c.2078G>C	NP_001035202.1:p.Arg693Thr
NM_001040114.1:c.2078G>C	NP_001035203.1:p.Arg693Thr
NM_002474.2:c.2057G>C	NP_002465.1:p.Arg686Thr
NM_022844.2:c.2057G>C	NP_074035.1:p.Arg686Thr
XM_011522502.1:c.2057G>C	XP_011520804.1:p.Arg686Thr
XM_011522502.2:c.2057G>C	XP_011520804.1:p.Arg686Thr
XM_017023250.1:c.2078G>C	XP_016878739.1:p.Arg693Thr
NM_002474.3:c.2057G>C MANE Select	NP_002465.1:p.Arg686Thr
NM_001040113.2:c.2078G>C MANE Plus Clinical	NP_001035202.1:p.Arg693Thr
NM_001040114.2:c.2078G>C	NP_001035203.1:p.Arg693Thr
NM_022844.3:c.2057G>C	NP_074035.1:p.Arg686Thr