Canonical Allele Identifier: CA1244291
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 2671648
ClinVar RCV Id: RCV003448733
dbSNP Id: rs746210903
ExAC: 1:171621393 TC / T
gnomAD v2: 1-171621393-TC-T
gnomAD v3: 1-171652253-TC-T
gnomAD v4: 1-171652253-TC-T
MyVariant Identifiers: chr1:g.171621394del (hg19) chr1:g.171652254del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652256del , CM000663.2:g.171652256del GRCh38
NC_000001.10:g.171621396del , CM000663.1:g.171621396del GRCh37
NC_000001.9:g.169888019del NCBI36
NG_008859.1:g.5380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.358del MANE Select ENSP00000037502.5:p.Glu120SerfsTer5
ENST00000638471.1:c.130+228del ENSP00000491206.1:n.130+228del
ENST00000037502.10:c.358del ENSP00000037502.5:p.Glu120SerfsTer5
ENST00000614688.1:c.358del ENSP00000478680.1:p.Glu120SerfsTer5
NM_000261.1:c.358del NP_000252.1:p.Glu120SerfsTer5
NM_000261.2:c.358del MANE Select NP_000252.1:p.Glu120SerfsTer5
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