Canonical Allele Identifier: CA395199332

Gene: MYH11

Linked Data

• ClinVar Variation Id: 517126
• ClinVar RCV Id: RCV000613766
• dbSNP Id: rs1555459260
• gnomAD v4: 16-15838252-T-C
• MyVariant Identifiers: chr16:g.15932109T>C (hg19) ; chr16:g.15838252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15838252T>C , CM000678.2:g.15838252T>C	GRCh38
NC_000016.9:g.15932109T>C , CM000678.1:g.15932109T>C	GRCh37
NC_000016.8:g.15839610T>C	NCBI36
NG_009299.1:g.23779A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000300036.6:c.1A>G MANE Select	ENSP00000300036.5:p.Met1Val
ENST00000452625.7:c.1A>G MANE Plus Clinical	ENSP00000407821.2:p.Met1Val
ENST00000576790.7:c.1A>G	ENSP00000458731.1:p.Met1Val
ENST00000652121.1:c.1A>G	ENSP00000498314.1:p.Met1Val
ENST00000300036.5:c.1A>G	ENSP00000300036.5:p.Met1Val
ENST00000396324.7:c.1A>G	ENSP00000379616.3:p.Met1Val
ENST00000452625.6:c.1A>G	ENSP00000407821.2:p.Met1Val
ENST00000571505.1:n.106A>G
ENST00000576790.6:c.1A>G	ENSP00000458731.1:p.Met1Val
ENST00000616439.4:c.1A>G	ENSP00000484924.1:p.Met1Val
NM_001040113.1:c.1A>G	NP_001035202.1:p.Met1Val
NM_001040114.1:c.1A>G	NP_001035203.1:p.Met1Val
NM_002474.2:c.1A>G	NP_002465.1:p.Met1Val
NM_022844.2:c.1A>G	NP_074035.1:p.Met1Val
XM_011522502.1:c.1A>G	XP_011520804.1:p.Met1Val
XM_011522502.2:c.1A>G	XP_011520804.1:p.Met1Val
XM_017023250.1:c.1A>G	XP_016878739.1:p.Met1Val
NM_002474.3:c.1A>G MANE Select	NP_002465.1:p.Met1Val
NM_001040113.2:c.1A>G MANE Plus Clinical	NP_001035202.1:p.Met1Val
NM_001040114.2:c.1A>G	NP_001035203.1:p.Met1Val
NM_022844.3:c.1A>G	NP_074035.1:p.Met1Val