Canonical Allele Identifier: CA1244345
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 876089
ClinVar RCV Id: RCV001100519 RCV001102463 RCV001520658 RCV002249689 RCV003389744 RCV004545061
dbSNP Id: rs199752860
ExAC: 1:171621718 C / G
gnomAD v2: 1-171621718-C-G
gnomAD v3: 1-171652578-C-G
gnomAD v4: 1-171652578-C-G
MyVariant Identifiers: chr1:g.171621718C>G (hg19) chr1:g.171652578C>G (hg38)
ERepo: CA1244345/MONDO:0007665/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652578C>G , CM000663.2:g.171652578C>G GRCh38
NC_000001.10:g.171621718C>G , CM000663.1:g.171621718C>G GRCh37
NC_000001.9:g.169888341C>G NCBI36
NG_008859.1:g.5056G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.34G>C MANE Select ENSP00000037502.5:p.Gly12Arg
ENST00000638471.1:c.34G>C ENSP00000491206.1:p.Gly12Arg
ENST00000037502.10:c.34G>C ENSP00000037502.5:p.Gly12Arg
ENST00000614688.1:c.34G>C ENSP00000478680.1:p.Gly12Arg
NM_000261.1:c.34G>C NP_000252.1:p.Gly12Arg
NM_000261.2:c.34G>C MANE Select NP_000252.1:p.Gly12Arg
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Search 100 bp 3'