Canonical Allele Identifier: CA1009130119
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1652903078
gnomAD v3: 1-171635780-C-A
gnomAD v4: 1-171635780-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635780C>A , CM000663.2:g.171635780C>A GRCh38
NC_000001.10:g.171604920C>A , CM000663.1:g.171604920C>A GRCh37
NC_000001.9:g.169871543C>A NCBI36
NG_008859.1:g.21854G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*145G>T (MYOC) MANE Select ENSP00000037502.5:n.*145G>T
ENST00000637303.1:c.235-2850C>A (MYOCOS) ENSP00000490048.1:n.235-2850C>A
ENST00000638471.1:c.*998G>T (MYOC) ENSP00000491206.1:n.*998G>T
ENST00000037502.10:c.*145G>T (MYOC) ENSP00000037502.5:n.*145G>T
ENST00000614688.1:c.*624G>T (MYOC) ENSP00000478680.1:n.*624G>T
NM_000261.1:c.*145G>T (MYOC) NP_000252.1:n.*145G>T
NM_000261.2:c.*145G>T (MYOC) MANE Select NP_000252.1:n.*145G>T
Search 100 bp 5'
Search 100 bp 3'