Canonical Allele Identifier: CA10608383
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 293721
ClinVar RCV Id: RCV000266535 RCV000361088 RCV003319983
dbSNP Id: rs886045567
gnomAD v2: 1-171621513-G-T
gnomAD v4: 1-171652373-G-T
MyVariant Identifiers: chr1:g.171621513G>T (hg19) chr1:g.171652373G>T (hg38)
ERepo: CA10608383/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652373G>T , CM000663.2:g.171652373G>T GRCh38
NC_000001.10:g.171621513G>T , CM000663.1:g.171621513G>T GRCh37
NC_000001.9:g.169888136G>T NCBI36
NG_008859.1:g.5261C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.239C>A MANE Select ENSP00000037502.5:p.Thr80Asn
ENST00000638471.1:c.130+109C>A ENSP00000491206.1:n.130+109C>A
ENST00000037502.10:c.239C>A ENSP00000037502.5:p.Thr80Asn
ENST00000614688.1:c.239C>A ENSP00000478680.1:p.Thr80Asn
NM_000261.1:c.239C>A NP_000252.1:p.Thr80Asn
NM_000261.2:c.239C>A MANE Select NP_000252.1:p.Thr80Asn
Search 100 bp 5'
Search 100 bp 3'