Canonical Allele Identifier: CA343724415
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171636263-T-C
MyVariant Identifiers: chr1:g.171605403T>C (hg19) chr1:g.171636263T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636263T>C , CM000663.2:g.171636263T>C GRCh38
NC_000001.10:g.171605403T>C , CM000663.1:g.171605403T>C GRCh37
NC_000001.9:g.169872026T>C NCBI36
NG_008859.1:g.21371A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1177A>G (MYOC) MANE Select ENSP00000037502.5:p.Ser393Gly
ENST00000637303.1:c.235-2367T>C (MYOCOS) ENSP00000490048.1:n.235-2367T>C
ENST00000638471.1:c.*515A>G (MYOC) ENSP00000491206.1:n.*515A>G
ENST00000037502.10:c.1177A>G (MYOC) ENSP00000037502.5:p.Ser393Gly
ENST00000614688.1:c.*141A>G (MYOC) ENSP00000478680.1:n.*141A>G
NM_000261.1:c.1177A>G (MYOC) NP_000252.1:p.Ser393Gly
NM_000261.2:c.1177A>G (MYOC) MANE Select NP_000252.1:p.Ser393Gly
Search 100 bp 5'
Search 100 bp 3'