Canonical Allele Identifier: CA343719026
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 2849134
ClinVar RCV Id: RCV003695570
MyVariant Identifiers: chr1:g.171621515G>C (hg19) chr1:g.171652375G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652375G>C , CM000663.2:g.171652375G>C GRCh38
NC_000001.10:g.171621515G>C , CM000663.1:g.171621515G>C GRCh37
NC_000001.9:g.169888138G>C NCBI36
NG_008859.1:g.5259C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.237C>G MANE Select ENSP00000037502.5:p.Ser79Arg
ENST00000638471.1:c.130+107C>G ENSP00000491206.1:n.130+107C>G
ENST00000037502.10:c.237C>G ENSP00000037502.5:p.Ser79Arg
ENST00000614688.1:c.237C>G ENSP00000478680.1:p.Ser79Arg
NM_000261.1:c.237C>G NP_000252.1:p.Ser79Arg
NM_000261.2:c.237C>G MANE Select NP_000252.1:p.Ser79Arg
Search 100 bp 5'
Search 100 bp 3'