Canonical Allele Identifier: CA527600370
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1558090469
gnomAD v2: 1-171621369-C-CGCTCCCGCCTCAGGGTGCCCA
gnomAD v4: 1-171652229-C-CGCTCCCGCCTCAGGGTGCCCA
MyVariant Identifiers: chr1:g.171621369_171621370insGCTCCCGCCTCAGGGTGCCCA (hg19) chr1:g.171652229_171652230insGCTCCCGCCTCAGGGTGCCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652236_171652256dup , CM000663.2:g.171652236_171652256dup GRCh38
NC_000001.10:g.171621376_171621396dup , CM000663.1:g.171621376_171621396dup GRCh37
NC_000001.9:g.169887999_169888019dup NCBI36
NG_008859.1:g.5384_5404dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.362_382dup MANE Select ENSP00000037502.5:p.Glu127_Arg128insLeuGlyThrLeuArgArgGlu
ENST00000638471.1:c.130+232_130+252dup ENSP00000491206.1:n.130+232_130+252dup
ENST00000037502.10:c.362_382dup ENSP00000037502.5:p.Glu127_Arg128insLeuGlyThrLeuArgArgGlu
ENST00000614688.1:c.362_382dup ENSP00000478680.1:p.Glu127_Arg128insLeuGlyThrLeuArgArgGlu
NM_000261.1:c.362_382dup NP_000252.1:p.Glu127_Arg128insLeuGlyThrLeuArgArgGlu
NM_000261.2:c.362_382dup MANE Select NP_000252.1:p.Glu127_Arg128insLeuGlyThrLeuArgArgGlu
Search 100 bp 5'
Search 100 bp 3'