Canonical Allele Identifier: CA1207023161
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1653370720
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652205dup , CM000663.2:g.171652205dup GRCh38
NC_000001.10:g.171621345dup , CM000663.1:g.171621345dup GRCh37
NC_000001.9:g.169887968dup NCBI36
NG_008859.1:g.5429dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.407dup MANE Select ENSP00000037502.5:p.Glu137ArgfsTer28
ENST00000638471.1:c.130+277dup ENSP00000491206.1:n.130+277dup
ENST00000037502.10:c.407dup ENSP00000037502.5:p.Glu137ArgfsTer28
ENST00000614688.1:c.407dup ENSP00000478680.1:p.Glu137ArgfsTer28
NM_000261.1:c.407dup NP_000252.1:p.Glu137ArgfsTer28
NM_000261.2:c.407dup MANE Select NP_000252.1:p.Glu137ArgfsTer28
Search 100 bp 5'
Search 100 bp 3'