Canonical Allele Identifier: CA421938632
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171636054-G-A
MyVariant Identifiers: chr1:g.171605194G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636054G>A , CM000663.2:g.171636054G>A GRCh38
NC_000001.10:g.171605194G>A , CM000663.1:g.171605194G>A GRCh37
NC_000001.9:g.169871817G>A NCBI36
NG_008859.1:g.21580C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1386C>T (MYOC) MANE Select ENSP00000037502.5:p.Thr462=
ENST00000637303.1:c.235-2576G>A (MYOCOS) ENSP00000490048.1:n.235-2576G>A
ENST00000638471.1:c.*724C>T (MYOC) ENSP00000491206.1:n.*724C>T
ENST00000037502.10:c.1386C>T (MYOC) ENSP00000037502.5:p.Thr462=
ENST00000614688.1:c.*350C>T (MYOC) ENSP00000478680.1:n.*350C>T
NM_000261.1:c.1386C>T (MYOC) NP_000252.1:p.Thr462=
NM_000261.2:c.1386C>T (MYOC) MANE Select NP_000252.1:p.Thr462=
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Search 100 bp 3'