Canonical Allele Identifier: CA343723116
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2498107
ClinVar RCV Id: RCV003219168
MyVariant Identifiers: chr1:g.171605133C>A (hg19) chr1:g.171635993C>A (hg38)
ERepo: CA343723116/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635993C>A , CM000663.2:g.171635993C>A GRCh38
NC_000001.10:g.171605133C>A , CM000663.1:g.171605133C>A GRCh37
NC_000001.9:g.169871756C>A NCBI36
NG_008859.1:g.21641G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1447G>T (MYOC) MANE Select ENSP00000037502.5:p.Glu483Ter
ENST00000637303.1:c.235-2637C>A (MYOCOS) ENSP00000490048.1:n.235-2637C>A
ENST00000638471.1:c.*785G>T (MYOC) ENSP00000491206.1:n.*785G>T
ENST00000037502.10:c.1447G>T (MYOC) ENSP00000037502.5:p.Glu483Ter
ENST00000614688.1:c.*411G>T (MYOC) ENSP00000478680.1:n.*411G>T
NM_000261.1:c.1447G>T (MYOC) NP_000252.1:p.Glu483Ter
NM_000261.2:c.1447G>T (MYOC) MANE Select NP_000252.1:p.Glu483Ter
Search 100 bp 5'
Search 100 bp 3'