Canonical Allele Identifier: CA394868952

Gene: MYH11

Linked Data

• ClinVar Variation Id: 2716691
• ClinVar RCV Id: RCV003513902
• dbSNP Id: rs1241527715
• gnomAD v2: 16-15844058-C-G
• gnomAD v4: 16-15750201-C-G
• MyVariant Identifiers: chr16:g.15844058C>G (hg19) ; chr16:g.15750201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15750201C>G , CM000678.2:g.15750201C>G	GRCh38
NC_000016.9:g.15844058C>G , CM000678.1:g.15844058C>G	GRCh37
NC_000016.8:g.15751559C>G	NCBI36
NG_009299.1:g.111830G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000300036.6:c.1995G>C MANE Select	ENSP00000300036.5:p.Met665Ile
ENST00000452625.7:c.2016G>C MANE Plus Clinical	ENSP00000407821.2:p.Met672Ile
ENST00000576790.7:c.1995G>C	ENSP00000458731.1:p.Met665Ile
ENST00000652121.1:c.*178G>C	ENSP00000498314.1:n.*178G>C
ENST00000300036.5:c.1995G>C	ENSP00000300036.5:p.Met665Ile
ENST00000396324.7:c.2016G>C	ENSP00000379616.3:p.Met672Ile
ENST00000452625.6:c.2016G>C	ENSP00000407821.2:p.Met672Ile
ENST00000570785.1:n.2417G>C
ENST00000576790.6:c.1995G>C	ENSP00000458731.1:p.Met665Ile
ENST00000616439.4:c.2016G>C	ENSP00000484924.1:p.Met672Ile
NM_001040113.1:c.2016G>C	NP_001035202.1:p.Met672Ile
NM_001040114.1:c.2016G>C	NP_001035203.1:p.Met672Ile
NM_002474.2:c.1995G>C	NP_002465.1:p.Met665Ile
NM_022844.2:c.1995G>C	NP_074035.1:p.Met665Ile
XM_011522502.1:c.1995G>C	XP_011520804.1:p.Met665Ile
XM_011522502.2:c.1995G>C	XP_011520804.1:p.Met665Ile
XM_017023250.1:c.2016G>C	XP_016878739.1:p.Met672Ile
NM_002474.3:c.1995G>C MANE Select	NP_002465.1:p.Met665Ile
NM_001040113.2:c.2016G>C MANE Plus Clinical	NP_001035202.1:p.Met672Ile
NM_001040114.2:c.2016G>C	NP_001035203.1:p.Met672Ile
NM_022844.3:c.1995G>C	NP_074035.1:p.Met665Ile