Canonical Allele Identifier: CA119182

Gene: MYOC MYOCOS

Linked Data

• ClinVar Variation Id: 7957
• ClinVar RCV Id: RCV000008420 ; RCV002509149 ; RCV002512906
• dbSNP Id: rs28936694
• ExAC: 1:171605384 C / A
• gnomAD v2: 1-171605384-C-A
• gnomAD v4: 1-171636244-C-A
• MyVariant Identifiers: chr1:g.171605384C>A (hg19) ; chr1:g.171636244C>A (hg38)
• ERepo: CA119182/MONDO:0020367/019
• PubMed: PMID:11774072

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636244C>A , CM000663.2:g.171636244C>A	GRCh38
NC_000001.10:g.171605384C>A , CM000663.1:g.171605384C>A	GRCh37
NC_000001.9:g.169872007C>A	NCBI36
NG_008859.1:g.21390G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1196G>T (MYOC) MANE Select	ENSP00000037502.5:p.Gly399Val
ENST00000637303.1:c.235-2386C>A (MYOCOS)	ENSP00000490048.1:n.235-2386C>A
ENST00000638471.1:c.*534G>T (MYOC)	ENSP00000491206.1:n.*534G>T
ENST00000037502.10:c.1196G>T (MYOC)	ENSP00000037502.5:p.Gly399Val
ENST00000614688.1:c.*160G>T (MYOC)	ENSP00000478680.1:n.*160G>T
NM_000261.1:c.1196G>T (MYOC)	NP_000252.1:p.Gly399Val
NM_000261.2:c.1196G>T (MYOC) MANE Select	NP_000252.1:p.Gly399Val