Canonical Allele Identifier: CA343718634
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 631579
ClinVar RCV Id: RCV000778199 RCV003319990
dbSNP Id: rs757551979
gnomAD v3: 1-171652269-C-A
gnomAD v4: 1-171652269-C-A
MyVariant Identifiers: chr1:g.171621409C>A (hg19) chr1:g.171652269C>A (hg38)
ERepo: CA343718634/MONDO:0007665/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652269C>A , CM000663.2:g.171652269C>A GRCh38
NC_000001.10:g.171621409C>A , CM000663.1:g.171621409C>A GRCh37
NC_000001.9:g.169888032C>A NCBI36
NG_008859.1:g.5365G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.343G>T MANE Select ENSP00000037502.5:p.Glu115Ter
ENST00000638471.1:c.130+213G>T ENSP00000491206.1:n.130+213G>T
ENST00000037502.10:c.343G>T ENSP00000037502.5:p.Glu115Ter
ENST00000614688.1:c.343G>T ENSP00000478680.1:p.Glu115Ter
NM_000261.1:c.343G>T NP_000252.1:p.Glu115Ter
NM_000261.2:c.343G>T MANE Select NP_000252.1:p.Glu115Ter
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