Canonical Allele Identifier: CA119179

Gene: MYOC

Linked Data

• ClinVar Variation Id: 7955
• ClinVar RCV Id: RCV000008418 ; RCV000944958 ; RCV000991157 ; RCV001100518 ; RCV001824115
• dbSNP Id: rs74315337
• ExAC: 1:171621616 G / A
• gnomAD v2: 1-171621616-G-A
• gnomAD v3: 1-171652476-G-A
• gnomAD v4: 1-171652476-G-A
• MyVariant Identifiers: chr1:g.171621616G>A (hg19) ; chr1:g.171652476G>A (hg38)
• ERepo: CA119179/MONDO:0020367/019
• PubMed: PMID:10330365

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652476G>A , CM000663.2:g.171652476G>A	GRCh38
NC_000001.10:g.171621616G>A , CM000663.1:g.171621616G>A	GRCh37
NC_000001.9:g.169888239G>A	NCBI36
NG_008859.1:g.5158C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000037502.11:c.136C>T MANE Select	ENSP00000037502.5:p.Arg46Ter
ENST00000638471.1:c.130+6C>T	ENSP00000491206.1:n.130+6C>T
ENST00000037502.10:c.136C>T	ENSP00000037502.5:p.Arg46Ter
ENST00000614688.1:c.136C>T	ENSP00000478680.1:p.Arg46Ter
NM_000261.1:c.136C>T	NP_000252.1:p.Arg46Ter
NM_000261.2:c.136C>T MANE Select	NP_000252.1:p.Arg46Ter