Canonical Allele Identifier: CA343723002
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2505294
ClinVar RCV Id: RCV003233471
gnomAD v4: 1-171635974-C-T
MyVariant Identifiers: chr1:g.171605114C>T (hg19) chr1:g.171635974C>T (hg38)
ERepo: CA343723002/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635974C>T , CM000663.2:g.171635974C>T GRCh38
NC_000001.10:g.171605114C>T , CM000663.1:g.171605114C>T GRCh37
NC_000001.9:g.169871737C>T NCBI36
NG_008859.1:g.21660G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1466G>A (MYOC) MANE Select ENSP00000037502.5:p.Trp489Ter
ENST00000637303.1:c.235-2656C>T (MYOCOS) ENSP00000490048.1:n.235-2656C>T
ENST00000638471.1:c.*804G>A (MYOC) ENSP00000491206.1:n.*804G>A
ENST00000037502.10:c.1466G>A (MYOC) ENSP00000037502.5:p.Trp489Ter
ENST00000614688.1:c.*430G>A (MYOC) ENSP00000478680.1:n.*430G>A
NM_000261.1:c.1466G>A (MYOC) NP_000252.1:p.Trp489Ter
NM_000261.2:c.1466G>A (MYOC) MANE Select NP_000252.1:p.Trp489Ter
Search 100 bp 5'
Search 100 bp 3'