Canonical Allele Identifier: CA1207016944
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636690C= , CM000663.2:g.171636690C= GRCh38
NC_000001.10:g.171605830C= , CM000663.1:g.171605830C= GRCh37
NC_000001.9:g.169872453C= NCBI36
NG_008859.1:g.20944G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.750G= (MYOC) MANE Select ENSP00000037502.5:p.Trp250=
ENST00000637303.1:c.235-1940C= (MYOCOS) ENSP00000490048.1:n.235-1940C=
ENST00000638471.1:c.*88G= (MYOC) ENSP00000491206.1:n.*88G=
ENST00000037502.10:c.750G= (MYOC) ENSP00000037502.5:p.Trp250=
ENST00000614688.1:c.750G= (MYOC) ENSP00000478680.1:p.Trp250=
NM_000261.1:c.750G= (MYOC) NP_000252.1:p.Trp250=
NM_000261.2:c.750G= (MYOC) MANE Select NP_000252.1:p.Trp250=
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