Canonical Allele Identifier: CA1244254
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 877000
ClinVar RCV Id: RCV001102367 RCV001102368 RCV003225959
dbSNP Id: rs145981631
ExAC: 1:171621179 A / T
gnomAD v2: 1-171621179-A-T
gnomAD v3: 1-171652039-A-T
gnomAD v4: 1-171652039-A-T
MyVariant Identifiers: chr1:g.171621179A>T (hg19) chr1:g.171652039A>T (hg38)
ERepo: CA1244254/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652039A>T , CM000663.2:g.171652039A>T GRCh38
NC_000001.10:g.171621179A>T , CM000663.1:g.171621179A>T GRCh37
NC_000001.9:g.169887802A>T NCBI36
NG_008859.1:g.5595T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.573T>A MANE Select ENSP00000037502.5:p.Thr191=
ENST00000638471.1:c.130+443T>A ENSP00000491206.1:n.130+443T>A
ENST00000037502.10:c.573T>A ENSP00000037502.5:p.Thr191=
ENST00000614688.1:c.573T>A ENSP00000478680.1:p.Thr191=
NM_000261.1:c.573T>A NP_000252.1:p.Thr191=
NM_000261.2:c.573T>A MANE Select NP_000252.1:p.Thr191=
Search 100 bp 5'
Search 100 bp 3'