Canonical Allele Identifier: CA10608378
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 293719
ClinVar RCV Id: RCV000310099 RCV000364737 RCV003319981
dbSNP Id: rs886045566
gnomAD v3: 1-171652277-T-C
gnomAD v4: 1-171652277-T-C
MyVariant Identifiers: chr1:g.171621417T>C (hg19) chr1:g.171652277T>C (hg38)
ERepo: CA10608378/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652277T>C , CM000663.2:g.171652277T>C GRCh38
NC_000001.10:g.171621417T>C , CM000663.1:g.171621417T>C GRCh37
NC_000001.9:g.169888040T>C NCBI36
NG_008859.1:g.5357A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.335A>G MANE Select ENSP00000037502.5:p.Glu112Gly
ENST00000638471.1:c.130+205A>G ENSP00000491206.1:n.130+205A>G
ENST00000037502.10:c.335A>G ENSP00000037502.5:p.Glu112Gly
ENST00000614688.1:c.335A>G ENSP00000478680.1:p.Glu112Gly
NM_000261.1:c.335A>G NP_000252.1:p.Glu112Gly
NM_000261.2:c.335A>G MANE Select NP_000252.1:p.Glu112Gly
Search 100 bp 5'
Search 100 bp 3'