Canonical Allele Identifier: CA343723526
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2500841
ClinVar RCV Id: RCV003226026
dbSNP Id: rs868311329
gnomAD v4: 1-171636067-C-T
MyVariant Identifiers: chr1:g.171605207C>T (hg19) chr1:g.171636067C>T (hg38)
ERepo: CA343723526/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636067C>T , CM000663.2:g.171636067C>T GRCh38
NC_000001.10:g.171605207C>T , CM000663.1:g.171605207C>T GRCh37
NC_000001.9:g.169871830C>T NCBI36
NG_008859.1:g.21567G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1373G>A (MYOC) MANE Select ENSP00000037502.5:p.Gly458Asp
ENST00000637303.1:c.235-2563C>T (MYOCOS) ENSP00000490048.1:n.235-2563C>T
ENST00000638471.1:c.*711G>A (MYOC) ENSP00000491206.1:n.*711G>A
ENST00000037502.10:c.1373G>A (MYOC) ENSP00000037502.5:p.Gly458Asp
ENST00000614688.1:c.*337G>A (MYOC) ENSP00000478680.1:n.*337G>A
NM_000261.1:c.1373G>A (MYOC) NP_000252.1:p.Gly458Asp
NM_000261.2:c.1373G>A (MYOC) MANE Select NP_000252.1:p.Gly458Asp
Search 100 bp 5'
Search 100 bp 3'