Canonical Allele Identifier: CA394868934

Gene: MYH11

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15750191G>C , CM000678.2:g.15750191G>C	GRCh38
NC_000016.9:g.15844048G>C , CM000678.1:g.15844048G>C	GRCh37
NC_000016.8:g.15751549G>C	NCBI36
NG_009299.1:g.111840C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002474.3:c.2005C>G MANE Select	NP_002465.1:p.Arg669Gly
ENST00000300036.6:c.2005C>G MANE Select	ENSP00000300036.5:p.Arg669Gly
NM_001040113.2:c.2026C>G MANE Plus Clinical	NP_001035202.1:p.Arg676Gly
ENST00000452625.7:c.2026C>G MANE Plus Clinical	ENSP00000407821.2:p.Arg676Gly
NM_001040113.1:c.2026C>G	NP_001035202.1:p.Arg676Gly
NM_001040114.1:c.2026C>G	NP_001035203.1:p.Arg676Gly
NM_001040114.2:c.2026C>G	NP_001035203.1:p.Arg676Gly
NM_002474.2:c.2005C>G	NP_002465.1:p.Arg669Gly
NM_022844.2:c.2005C>G	NP_074035.1:p.Arg669Gly
NM_022844.3:c.2005C>G	NP_074035.1:p.Arg669Gly
ENST00000300036.5:c.2005C>G	ENSP00000300036.5:p.Arg669Gly
ENST00000396324.7:c.2026C>G	ENSP00000379616.3:p.Arg676Gly
ENST00000452625.6:c.2026C>G	ENSP00000407821.2:p.Arg676Gly
ENST00000570785.1:n.2427C>G
ENST00000576790.6:c.2005C>G	ENSP00000458731.1:p.Arg669Gly
ENST00000576790.7:c.2005C>G	ENSP00000458731.1:p.Arg669Gly
ENST00000616439.4:c.2026C>G	ENSP00000484924.1:p.Arg676Gly
ENST00000652121.1:c.*188C>G	ENSP00000498314.1:n.*188C>G
XM_011522502.1:c.2005C>G	XP_011520804.1:p.Arg669Gly
XM_011522502.2:c.2005C>G	XP_011520804.1:p.Arg669Gly
XM_017023250.1:c.2026C>G	XP_016878739.1:p.Arg676Gly