Canonical Allele Identifier: CA292357
Gene: MYH11 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15784688A>G , CM000678.2:g.15784688A>G GRCh38
NC_000016.9:g.15878545A>G , CM000678.1:g.15878545A>G GRCh37
NC_000016.8:g.15786046A>G NCBI36
NG_009299.1:g.77343T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300036.6:c.633+1942T>C MANE Select ENSP00000300036.5:n.633+1942T>C
ENST00000452625.7:c.654+10T>C MANE Plus Clinical ENSP00000407821.2:n.654+10T>C
ENST00000576790.7:c.633+1942T>C ENSP00000458731.1:n.633+1942T>C
ENST00000652121.1:c.633+1942T>C ENSP00000498314.1:n.633+1942T>C
ENST00000300036.5:c.633+1942T>C ENSP00000300036.5:n.633+1942T>C
ENST00000396324.7:c.654+10T>C ENSP00000379616.3:n.654+10T>C
ENST00000452625.6:c.654+10T>C ENSP00000407821.2:n.654+10T>C
ENST00000576790.6:c.633+1942T>C ENSP00000458731.1:n.633+1942T>C
ENST00000616439.4:c.654+1787T>C ENSP00000484924.1:n.654+1787T>C
NM_001040113.1:c.654+10T>C NP_001035202.1:n.654+10T>C
NM_001040114.1:c.654+10T>C NP_001035203.1:n.654+10T>C
NM_002474.2:c.633+1942T>C NP_002465.1:n.633+1942T>C
NM_022844.2:c.633+1942T>C NP_074035.1:n.633+1942T>C
XM_011522502.1:c.633+1942T>C XP_011520804.1:n.633+1942T>C
XM_011522502.2:c.633+1942T>C XP_011520804.1:n.633+1942T>C
XM_017023250.1:c.654+10T>C XP_016878739.1:n.654+10T>C
NM_002474.3:c.633+1942T>C MANE Select NP_002465.1:n.633+1942T>C
NM_001040113.2:c.654+10T>C MANE Plus Clinical NP_001035202.1:n.654+10T>C
NM_001040114.2:c.654+10T>C NP_001035203.1:n.654+10T>C
NM_022844.3:c.633+1942T>C NP_074035.1:n.633+1942T>C