Canonical Allele Identifier: CA119185

Gene: MYOC MYOCOS

Linked Data

• ClinVar Variation Id: 7960
• ClinVar RCV Id: RCV000008424 ; RCV001838524
• dbSNP Id: rs74315341
• gnomAD v4: 1-171636686-C-T
• MyVariant Identifiers: chr1:g.171605826C>T (hg19) ; chr1:g.171636686C>T (hg38)
• ERepo: CA119185/MONDO:0020367/019
• PubMed: PMID:10873982 ; PMID:11004290 ; PMID:17210859

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636686C>T , CM000663.2:g.171636686C>T	GRCh38
NC_000001.10:g.171605826C>T , CM000663.1:g.171605826C>T	GRCh37
NC_000001.9:g.169872449C>T	NCBI36
NG_008859.1:g.20948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.754G>A (MYOC) MANE Select	ENSP00000037502.5:p.Gly252Arg
ENST00000637303.1:c.235-1944C>T (MYOCOS)	ENSP00000490048.1:n.235-1944C>T
ENST00000638471.1:c.*92G>A (MYOC)	ENSP00000491206.1:n.*92G>A
ENST00000037502.10:c.754G>A (MYOC)	ENSP00000037502.5:p.Gly252Arg
ENST00000614688.1:c.754G>A (MYOC)	ENSP00000478680.1:p.Gly252Arg
NM_000261.1:c.754G>A (MYOC)	NP_000252.1:p.Gly252Arg
NM_000261.2:c.754G>A (MYOC) MANE Select	NP_000252.1:p.Gly252Arg