Canonical Allele Identifier: CA343718513
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652226T>A , CM000663.2:g.171652226T>A GRCh38
NC_000001.10:g.171621366T>A , CM000663.1:g.171621366T>A GRCh37
NC_000001.9:g.169887989T>A NCBI36
NG_008859.1:g.5408A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.386A>T MANE Select ENSP00000037502.5:p.Asp129Val
ENST00000638471.1:c.130+256A>T ENSP00000491206.1:n.130+256A>T
ENST00000037502.10:c.386A>T ENSP00000037502.5:p.Asp129Val
ENST00000614688.1:c.386A>T ENSP00000478680.1:p.Asp129Val
NM_000261.1:c.386A>T NP_000252.1:p.Asp129Val
NM_000261.2:c.386A>T MANE Select NP_000252.1:p.Asp129Val