Canonical Allele Identifier: CA1244071
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs766899237
ExAC: 1:171605404 G / A
gnomAD v2: 1-171605404-G-A
gnomAD v4: 1-171636264-G-A
MyVariant Identifiers: chr1:g.171605404G>A (hg19) chr1:g.171636264G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636264G>A , CM000663.2:g.171636264G>A GRCh38
NC_000001.10:g.171605404G>A , CM000663.1:g.171605404G>A GRCh37
NC_000001.9:g.169872027G>A NCBI36
NG_008859.1:g.21370C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1176C>T (MYOC) MANE Select ENSP00000037502.5:p.Tyr392=
ENST00000637303.1:c.235-2366G>A (MYOCOS) ENSP00000490048.1:n.235-2366G>A
ENST00000638471.1:c.*514C>T (MYOC) ENSP00000491206.1:n.*514C>T
ENST00000037502.10:c.1176C>T (MYOC) ENSP00000037502.5:p.Tyr392=
ENST00000614688.1:c.*140C>T (MYOC) ENSP00000478680.1:n.*140C>T
NM_000261.1:c.1176C>T (MYOC) NP_000252.1:p.Tyr392=
NM_000261.2:c.1176C>T (MYOC) MANE Select NP_000252.1:p.Tyr392=
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