Canonical Allele Identifier: CA975070975

Gene: MYH11

Linked Data

• dbSNP Id: rs2041521203
• gnomAD v3: 16-15750004-A-G
• gnomAD v4: 16-15750004-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15750004A>G , CM000678.2:g.15750004A>G	GRCh38
NC_000016.9:g.15843861A>G , CM000678.1:g.15843861A>G	GRCh37
NC_000016.8:g.15751362A>G	NCBI36
NG_009299.1:g.112027T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.2058+134T>C MANE Select	ENSP00000300036.5:n.2058+134T>C
ENST00000452625.7:c.2079+134T>C MANE Plus Clinical	ENSP00000407821.2:n.2079+134T>C
ENST00000576790.7:c.2058+134T>C	ENSP00000458731.1:n.2058+134T>C
ENST00000652121.1:c.*241+134T>C	ENSP00000498314.1:n.*241+134T>C
ENST00000300036.5:c.2058+134T>C	ENSP00000300036.5:n.2058+134T>C
ENST00000396324.7:c.2079+134T>C	ENSP00000379616.3:n.2079+134T>C
ENST00000452625.6:c.2079+134T>C	ENSP00000407821.2:n.2079+134T>C
ENST00000570785.1:n.2614T>C
ENST00000576790.6:c.2058+134T>C	ENSP00000458731.1:n.2058+134T>C
ENST00000616439.4:c.2079+134T>C	ENSP00000484924.1:n.2079+134T>C
NM_001040113.1:c.2079+134T>C	NP_001035202.1:n.2079+134T>C
NM_001040114.1:c.2079+134T>C	NP_001035203.1:n.2079+134T>C
NM_002474.2:c.2058+134T>C	NP_002465.1:n.2058+134T>C
NM_022844.2:c.2058+134T>C	NP_074035.1:n.2058+134T>C
XM_011522502.1:c.2058+134T>C	XP_011520804.1:n.2058+134T>C
XM_011522502.2:c.2058+134T>C	XP_011520804.1:n.2058+134T>C
XM_017023250.1:c.2079+134T>C	XP_016878739.1:n.2079+134T>C
NM_002474.3:c.2058+134T>C MANE Select	NP_002465.1:n.2058+134T>C
NM_001040113.2:c.2079+134T>C MANE Plus Clinical	NP_001035202.1:n.2079+134T>C
NM_001040114.2:c.2079+134T>C	NP_001035203.1:n.2079+134T>C
NM_022844.3:c.2058+134T>C	NP_074035.1:n.2058+134T>C