Canonical Allele Identifier: CA232283
Gene: MYL11 HGNC NCBI

Linked Data

ClinVar Variation Id: 91978
ClinVar RCV Id: RCV000122535
dbSNP Id: rs386352335
MyVariant Identifiers: chr16:g.30389142C>A (hg19) chr16:g.30377821C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30377821C>A , CM000678.2:g.30377821C>A GRCh38
NC_000016.9:g.30389142C>A , CM000678.1:g.30389142C>A GRCh37
NC_000016.8:g.30296643C>A NCBI36
NG_050592.1:g.11888C>A
NG_050732.1:g.4510C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322861.12:c.431C>A MANE Select ENSP00000325239.7:p.Pro144His
ENST00000322861.11:c.431C>A ENSP00000325239.7:p.Pro144His
ENST00000563728.1:n.166C>A
ENST00000566955.1:c.521C>A ENSP00000455356.1:p.Pro174His
NM_013292.3:c.431C>A NP_037424.2:p.Pro144His
NM_001324458.1:c.431C>A NP_001311387.1:p.Pro144His
NM_001324459.1:c.431C>A NP_001311388.1:p.Pro144His
NM_013292.4:c.431C>A NP_037424.2:p.Pro144His
NM_001324458.2:c.431C>A NP_001311387.1:p.Pro144His
NM_013292.5:c.431C>A MANE Select NP_037424.2:p.Pro144His
NM_001324459.2:c.431C>A NP_001311388.1:p.Pro144His
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