Canonical Allele Identifier: CA394861996

Gene: MYH11

Linked Data

• ClinVar Variation Id: 465724
• ClinVar RCV Id: RCV000559707 ; RCV002497126 ; RCV003302831
• dbSNP Id: rs886038854
• gnomAD v4: 16-15735493-G-C
• MyVariant Identifiers: chr16:g.15829350G>C (hg19) ; chr16:g.15735493G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15735493G>C , CM000678.2:g.15735493G>C	GRCh38
NC_000016.9:g.15829350G>C , CM000678.1:g.15829350G>C	GRCh37
NC_000016.8:g.15736851G>C	NCBI36
NG_009299.1:g.126538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.3379C>G MANE Select	ENSP00000300036.5:p.Leu1127Val
ENST00000452625.7:c.3400C>G MANE Plus Clinical	ENSP00000407821.2:p.Leu1134Val
ENST00000576790.7:c.3379C>G	ENSP00000458731.1:p.Leu1127Val
ENST00000652121.1:c.*1562C>G	ENSP00000498314.1:n.*1562C>G
ENST00000300036.5:c.3379C>G	ENSP00000300036.5:p.Leu1127Val
ENST00000396324.7:c.3400C>G	ENSP00000379616.3:p.Leu1134Val
ENST00000452625.6:c.3400C>G	ENSP00000407821.2:p.Leu1134Val
ENST00000576790.6:c.3379C>G	ENSP00000458731.1:p.Leu1127Val
ENST00000616439.4:c.3400C>G	ENSP00000484924.1:p.Leu1134Val
NM_001040113.1:c.3400C>G	NP_001035202.1:p.Leu1134Val
NM_001040114.1:c.3400C>G	NP_001035203.1:p.Leu1134Val
NM_002474.2:c.3379C>G	NP_002465.1:p.Leu1127Val
NM_022844.2:c.3379C>G	NP_074035.1:p.Leu1127Val
XM_011522502.1:c.3379C>G	XP_011520804.1:p.Leu1127Val
XM_011522502.2:c.3379C>G	XP_011520804.1:p.Leu1127Val
XM_017023250.1:c.3400C>G	XP_016878739.1:p.Leu1134Val
NM_002474.3:c.3379C>G MANE Select	NP_002465.1:p.Leu1127Val
NM_001040113.2:c.3400C>G MANE Plus Clinical	NP_001035202.1:p.Leu1134Val
NM_001040114.2:c.3400C>G	NP_001035203.1:p.Leu1134Val
NM_022844.3:c.3379C>G	NP_074035.1:p.Leu1127Val