Canonical Allele Identifier: CA1139771053
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2505293
ClinVar RCV Id: RCV003233470
ERepo: CA1139771053/MONDO:0007665/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635973_171635974insG , CM000663.2:g.171635973_171635974insG GRCh38
NC_000001.10:g.171605113_171605114insG , CM000663.1:g.171605113_171605114insG GRCh37
NC_000001.9:g.169871736_169871737insG NCBI36
NG_008859.1:g.21660_21661insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1466_1467insC (MYOC) MANE Select ENSP00000037502.5:p.Trp489CysfsTer10
ENST00000637303.1:c.235-2657_235-2656insG (MYOCOS) ENSP00000490048.1:n.235-2657_235-2656insG
ENST00000638471.1:c.*804_*805insC (MYOC) ENSP00000491206.1:n.*804_*805insC
ENST00000037502.10:c.1466_1467insC (MYOC) ENSP00000037502.5:p.Trp489CysfsTer10
ENST00000614688.1:c.*430_*431insC (MYOC) ENSP00000478680.1:n.*430_*431insC
NM_000261.1:c.1466_1467insC (MYOC) NP_000252.1:p.Trp489CysfsTer10
NM_000261.2:c.1466_1467insC (MYOC) MANE Select NP_000252.1:p.Trp489CysfsTer10
Search 100 bp 5'
Search 100 bp 3'