Canonical Allele Identifier: CA16519643
Gene: MYH11 HGNC NCBI
dbSNP:
17213965
gnomAD v2:
16:15881967 C / T
gnomAD v3:
16:15788110 C / T
gnomAD v4:
chr16-15788110-C-T
Joint Max Group AF 0.26897397 (AMR)
Genomes Max Group AF 0.26897397 (AMR)
MyVariant.info:
GRCh38 chr16:g.15788110C>T
GRCh37 chr16:g.15881967C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15788110C>T , CM000678.2:g.15788110C>T GRCh38
NC_000016.9:g.15881967C>T , CM000678.1:g.15881967C>T GRCh37
NC_000016.8:g.15789468C>T NCBI36
NG_009299.1:g.73921G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300036.6:c.531-1378G>A MANE Select ENSP00000300036.5:n.531-1378G>A
ENST00000452625.7:c.531-1378G>A MANE Plus Clinical ENSP00000407821.2:n.531-1378G>A
ENST00000576790.7:c.531-1378G>A ENSP00000458731.1:n.531-1378G>A
ENST00000652121.1:c.531-1378G>A ENSP00000498314.1:n.531-1378G>A
ENST00000300036.5:c.531-1378G>A ENSP00000300036.5:n.531-1378G>A
ENST00000396324.7:c.531-1378G>A ENSP00000379616.3:n.531-1378G>A
ENST00000452625.6:c.531-1378G>A ENSP00000407821.2:n.531-1378G>A
ENST00000571505.1:n.636-1378G>A
ENST00000576790.6:c.531-1378G>A ENSP00000458731.1:n.531-1378G>A
ENST00000616439.4:c.531-1378G>A ENSP00000484924.1:n.531-1378G>A
NM_001040113.1:c.531-1378G>A NP_001035202.1:n.531-1378G>A
NM_001040114.1:c.531-1378G>A NP_001035203.1:n.531-1378G>A
NM_002474.2:c.531-1378G>A NP_002465.1:n.531-1378G>A
NM_022844.2:c.531-1378G>A NP_074035.1:n.531-1378G>A
XM_011522502.1:c.531-1378G>A XP_011520804.1:n.531-1378G>A
XM_011522502.2:c.531-1378G>A XP_011520804.1:n.531-1378G>A
XM_017023250.1:c.531-1378G>A XP_016878739.1:n.531-1378G>A
NM_002474.3:c.531-1378G>A MANE Select NP_002465.1:n.531-1378G>A
NM_001040113.2:c.531-1378G>A MANE Plus Clinical NP_001035202.1:n.531-1378G>A
NM_001040114.2:c.531-1378G>A NP_001035203.1:n.531-1378G>A
NM_022844.3:c.531-1378G>A NP_074035.1:n.531-1378G>A
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