Canonical Allele Identifier: CA32686185
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 1810366
ClinVar RCV Id: RCV002509853
dbSNP Id: rs982896610
COSMIC: COSM4705115
MyVariant Identifiers: chr1:g.171605799C>T (hg19) chr1:g.171636659C>T (hg38)
ERepo: CA32686185/MONDO:0020367/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636659C>T , CM000663.2:g.171636659C>T GRCh38
NC_000001.10:g.171605799C>T , CM000663.1:g.171605799C>T GRCh37
NC_000001.9:g.169872422C>T NCBI36
NG_008859.1:g.20975G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.781G>A (MYOC) MANE Select ENSP00000037502.5:p.Glu261Lys
ENST00000637303.1:c.235-1971C>T (MYOCOS) ENSP00000490048.1:n.235-1971C>T
ENST00000638471.1:c.*119G>A (MYOC) ENSP00000491206.1:n.*119G>A
ENST00000037502.10:c.781G>A (MYOC) ENSP00000037502.5:p.Glu261Lys
ENST00000614688.1:c.781G>A (MYOC) ENSP00000478680.1:p.Glu261Lys
NM_000261.1:c.781G>A (MYOC) NP_000252.1:p.Glu261Lys
NM_000261.2:c.781G>A (MYOC) MANE Select NP_000252.1:p.Glu261Lys
Search 100 bp 5'
Search 100 bp 3'