Canonical Allele Identifier: CA1244183
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 293714
ClinVar RCV Id: RCV000282102 RCV000374266 RCV003319980
dbSNP Id: rs781655611
ExAC: 1:171607739 G / T
gnomAD v2: 1-171607739-G-T
gnomAD v4: 1-171638599-G-T
MyVariant Identifiers: chr1:g.171607739G>T (hg19) chr1:g.171638599G>T (hg38)
ERepo: CA1244183/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171638599G>T , CM000663.2:g.171638599G>T GRCh38
NC_000001.10:g.171607739G>T , CM000663.1:g.171607739G>T GRCh37
NC_000001.9:g.169874362G>T NCBI36
NG_008859.1:g.19035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.728C>A (MYOC) MANE Select ENSP00000037502.5:p.Thr243Asn
ENST00000637303.1:c.235-31G>T (MYOCOS) ENSP00000490048.1:n.235-31G>T
ENST00000638471.1:c.*66C>A (MYOC) ENSP00000491206.1:n.*66C>A
ENST00000037502.10:c.728C>A (MYOC) ENSP00000037502.5:p.Thr243Asn
ENST00000614688.1:c.728C>A (MYOC) ENSP00000478680.1:p.Thr243Asn
NM_000261.1:c.728C>A (MYOC) NP_000252.1:p.Thr243Asn
NM_000261.2:c.728C>A (MYOC) MANE Select NP_000252.1:p.Thr243Asn
Search 100 bp 5'
Search 100 bp 3'