Canonical Allele Identifier: CA621062932

Gene: MYH11

Linked Data

• dbSNP Id: rs1447919369
• gnomAD v2: 16-15872599-A-C
• gnomAD v3: 16-15778742-A-C
• gnomAD v4: 16-15778742-A-C
• MyVariant Identifiers: chr16:g.15872599A>C (hg19) ; chr16:g.15778742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15778742A>C , CM000678.2:g.15778742A>C	GRCh38
NC_000016.9:g.15872599A>C , CM000678.1:g.15872599A>C	GRCh37
NC_000016.8:g.15780100A>C	NCBI36
NG_009299.1:g.83289T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.790+38T>G MANE Select	ENSP00000300036.5:n.790+38T>G
ENST00000452625.7:c.811+38T>G MANE Plus Clinical	ENSP00000407821.2:n.811+38T>G
ENST00000571910.2:n.174+38T>G
ENST00000576790.7:c.790+38T>G	ENSP00000458731.1:n.790+38T>G
ENST00000652121.1:c.790+38T>G	ENSP00000498314.1:n.790+38T>G
ENST00000300036.5:c.790+38T>G	ENSP00000300036.5:n.790+38T>G
ENST00000396324.7:c.811+38T>G	ENSP00000379616.3:n.811+38T>G
ENST00000452625.6:c.811+38T>G	ENSP00000407821.2:n.811+38T>G
ENST00000570785.1:n.1212+38T>G
ENST00000571910.1:n.644+38T>G
ENST00000576790.6:c.790+38T>G	ENSP00000458731.1:n.790+38T>G
ENST00000616439.4:c.811+38T>G	ENSP00000484924.1:n.811+38T>G
NM_001040113.1:c.811+38T>G	NP_001035202.1:n.811+38T>G
NM_001040114.1:c.811+38T>G	NP_001035203.1:n.811+38T>G
NM_002474.2:c.790+38T>G	NP_002465.1:n.790+38T>G
NM_022844.2:c.790+38T>G	NP_074035.1:n.790+38T>G
XM_011522502.1:c.790+38T>G	XP_011520804.1:n.790+38T>G
XM_011522502.2:c.790+38T>G	XP_011520804.1:n.790+38T>G
XM_017023250.1:c.811+38T>G	XP_016878739.1:n.811+38T>G
NM_002474.3:c.790+38T>G MANE Select	NP_002465.1:n.790+38T>G
NM_001040113.2:c.811+38T>G MANE Plus Clinical	NP_001035202.1:n.811+38T>G
NM_001040114.2:c.811+38T>G	NP_001035203.1:n.811+38T>G
NM_022844.3:c.790+38T>G	NP_074035.1:n.790+38T>G