Canonical Allele Identifier: CA1244272
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 874204
ClinVar RCV Id: RCV001096962 RCV001096963 RCV001838652 RCV002249685
dbSNP Id: rs199746824
ExAC: 1:171621279 C / T
gnomAD v2: 1-171621279-C-T
gnomAD v3: 1-171652139-C-T
gnomAD v4: 1-171652139-C-T
MyVariant Identifiers: chr1:g.171621279C>T (hg19) chr1:g.171652139C>T (hg38)
ERepo: CA1244272/MONDO:0020367/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652139C>T , CM000663.2:g.171652139C>T GRCh38
NC_000001.10:g.171621279C>T , CM000663.1:g.171621279C>T GRCh37
NC_000001.9:g.169887902C>T NCBI36
NG_008859.1:g.5495G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.473G>A MANE Select ENSP00000037502.5:p.Arg158Gln
ENST00000638471.1:c.130+343G>A ENSP00000491206.1:n.130+343G>A
ENST00000037502.10:c.473G>A ENSP00000037502.5:p.Arg158Gln
ENST00000614688.1:c.473G>A ENSP00000478680.1:p.Arg158Gln
NM_000261.1:c.473G>A NP_000252.1:p.Arg158Gln
NM_000261.2:c.473G>A MANE Select NP_000252.1:p.Arg158Gln
Search 100 bp 5'
Search 100 bp 3'