Canonical Allele Identifier: CA421938581
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2429763
ClinVar RCV Id: RCV003127216
dbSNP Id: rs1378048690
gnomAD v2: 1-171605128-C-T
gnomAD v3: 1-171635988-C-T
gnomAD v4: 1-171635988-C-T
COSMIC: COSM3478327
MyVariant Identifiers: chr1:g.171605128C>T (hg19) chr1:g.171635988C>T (hg38)
ERepo: CA421938581/MONDO:0020367/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635988C>T , CM000663.2:g.171635988C>T GRCh38
NC_000001.10:g.171605128C>T , CM000663.1:g.171605128C>T GRCh37
NC_000001.9:g.169871751C>T NCBI36
NG_008859.1:g.21646G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1452G>A (MYOC) MANE Select ENSP00000037502.5:p.Lys484=
ENST00000637303.1:c.235-2642C>T (MYOCOS) ENSP00000490048.1:n.235-2642C>T
ENST00000638471.1:c.*790G>A (MYOC) ENSP00000491206.1:n.*790G>A
ENST00000037502.10:c.1452G>A (MYOC) ENSP00000037502.5:p.Lys484=
ENST00000614688.1:c.*416G>A (MYOC) ENSP00000478680.1:n.*416G>A
NM_000261.1:c.1452G>A (MYOC) NP_000252.1:p.Lys484=
NM_000261.2:c.1452G>A (MYOC) MANE Select NP_000252.1:p.Lys484=
Search 100 bp 5'
Search 100 bp 3'