Canonical Allele Identifier: CA1207023040
Gene: MYOC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171651875A= , CM000663.2:g.171651875A= GRCh38
NC_000001.10:g.171621015A= , CM000663.1:g.171621015A= GRCh37
NC_000001.9:g.169887638A= NCBI36
NG_008859.1:g.5759T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.604+133T= MANE Select ENSP00000037502.5:n.604+133T=
ENST00000638471.1:c.130+607T= ENSP00000491206.1:n.130+607T=
ENST00000037502.10:c.604+133T= ENSP00000037502.5:n.604+133T=
ENST00000614688.1:c.604+133T= ENSP00000478680.1:n.604+133T=
NM_000261.1:c.604+133T= NP_000252.1:n.604+133T=
NM_000261.2:c.604+133T= MANE Select NP_000252.1:n.604+133T=