Canonical Allele Identifier: CA119174
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 7950
ClinVar RCV Id: RCV000008413 RCV002247270
dbSNP Id: rs74315331
MyVariant Identifiers: chr1:g.171605150A>C (hg19) chr1:g.171636010A>C (hg38)
ERepo: CA119174/MONDO:0020367/019
PubMed: PMID:9328473
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636010A>C , CM000663.2:g.171636010A>C GRCh38
NC_000001.10:g.171605150A>C , CM000663.1:g.171605150A>C GRCh37
NC_000001.9:g.169871773A>C NCBI36
NG_008859.1:g.21624T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1430T>G (MYOC) MANE Select ENSP00000037502.5:p.Ile477Ser
ENST00000637303.1:c.235-2620A>C (MYOCOS) ENSP00000490048.1:n.235-2620A>C
ENST00000638471.1:c.*768T>G (MYOC) ENSP00000491206.1:n.*768T>G
ENST00000037502.10:c.1430T>G (MYOC) ENSP00000037502.5:p.Ile477Ser
ENST00000614688.1:c.*394T>G (MYOC) ENSP00000478680.1:n.*394T>G
NM_000261.1:c.1430T>G (MYOC) NP_000252.1:p.Ile477Ser
NM_000261.2:c.1430T>G (MYOC) MANE Select NP_000252.1:p.Ile477Ser
Search 100 bp 5'
Search 100 bp 3'