Canonical Allele Identifier: CA343719642
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652481C>A , CM000663.2:g.171652481C>A GRCh38
NC_000001.10:g.171621621C>A , CM000663.1:g.171621621C>A GRCh37
NC_000001.9:g.169888244C>A NCBI36
NG_008859.1:g.5153G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.131G>T MANE Select ENSP00000037502.5:p.Ser44Ile
ENST00000638471.1:c.130+1G>T ENSP00000491206.1:n.130+1G>T
ENST00000037502.10:c.131G>T ENSP00000037502.5:p.Ser44Ile
ENST00000614688.1:c.131G>T ENSP00000478680.1:p.Ser44Ile
NM_000261.1:c.131G>T NP_000252.1:p.Ser44Ile
NM_000261.2:c.131G>T MANE Select NP_000252.1:p.Ser44Ile