Canonical Allele Identifier: CA343719910
Gene: MYOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171621681G>A (hg19) chr1:g.171652541G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652541G>A , CM000663.2:g.171652541G>A GRCh38
NC_000001.10:g.171621681G>A , CM000663.1:g.171621681G>A GRCh37
NC_000001.9:g.169888304G>A NCBI36
NG_008859.1:g.5093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.71C>T MANE Select ENSP00000037502.5:p.Ala24Val
ENST00000638471.1:c.71C>T ENSP00000491206.1:p.Ala24Val
ENST00000037502.10:c.71C>T ENSP00000037502.5:p.Ala24Val
ENST00000614688.1:c.71C>T ENSP00000478680.1:p.Ala24Val
NM_000261.1:c.71C>T NP_000252.1:p.Ala24Val
NM_000261.2:c.71C>T MANE Select NP_000252.1:p.Ala24Val
Search 100 bp 5'
Search 100 bp 3'