Canonical Allele Identifier: CA1009130211
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1652906043
gnomAD v3: 1-171635897-G-GCC
gnomAD v4: 1-171635897-G-GCC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635898_171635899dup , CM000663.2:g.171635898_171635899dup GRCh38
NC_000001.10:g.171605038_171605039dup , CM000663.1:g.171605038_171605039dup GRCh37
NC_000001.9:g.169871661_169871662dup NCBI36
NG_008859.1:g.21735_21736dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*26_*27dup (MYOC) MANE Select ENSP00000037502.5:n.*26_*27dup
ENST00000637303.1:c.235-2732_235-2731dup (MYOCOS) ENSP00000490048.1:n.235-2732_235-2731dup
ENST00000638471.1:c.*879_*880dup (MYOC) ENSP00000491206.1:n.*879_*880dup
ENST00000037502.10:c.*26_*27dup (MYOC) ENSP00000037502.5:n.*26_*27dup
ENST00000614688.1:c.*505_*506dup (MYOC) ENSP00000478680.1:n.*505_*506dup
NM_000261.1:c.*26_*27dup (MYOC) NP_000252.1:n.*26_*27dup
NM_000261.2:c.*26_*27dup (MYOC) MANE Select NP_000252.1:n.*26_*27dup
Search 100 bp 5'
Search 100 bp 3'