Canonical Allele Identifier: CA421939269
Gene: MYOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171621692C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652552C>T , CM000663.2:g.171652552C>T GRCh38
NC_000001.10:g.171621692C>T , CM000663.1:g.171621692C>T GRCh37
NC_000001.9:g.169888315C>T NCBI36
NG_008859.1:g.5082G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.60G>A MANE Select ENSP00000037502.5:p.Leu20=
ENST00000638471.1:c.60G>A ENSP00000491206.1:p.Leu20=
ENST00000037502.10:c.60G>A ENSP00000037502.5:p.Leu20=
ENST00000614688.1:c.60G>A ENSP00000478680.1:p.Leu20=
NM_000261.1:c.60G>A NP_000252.1:p.Leu20=
NM_000261.2:c.60G>A MANE Select NP_000252.1:p.Leu20=
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