Canonical Allele Identifier: CA343718998
Gene: MYOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171621508G>C (hg19) chr1:g.171652368G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652368G>C , CM000663.2:g.171652368G>C GRCh38
NC_000001.10:g.171621508G>C , CM000663.1:g.171621508G>C GRCh37
NC_000001.9:g.169888131G>C NCBI36
NG_008859.1:g.5266C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.244C>G MANE Select ENSP00000037502.5:p.Arg82Gly
ENST00000638471.1:c.130+114C>G ENSP00000491206.1:n.130+114C>G
ENST00000037502.10:c.244C>G ENSP00000037502.5:p.Arg82Gly
ENST00000614688.1:c.244C>G ENSP00000478680.1:p.Arg82Gly
NM_000261.1:c.244C>G NP_000252.1:p.Arg82Gly
NM_000261.2:c.244C>G MANE Select NP_000252.1:p.Arg82Gly
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