Canonical Allele Identifier: CA343718525
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1157512387

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652232T>A , CM000663.2:g.171652232T>A GRCh38
NC_000001.10:g.171621372T>A , CM000663.1:g.171621372T>A GRCh37
NC_000001.9:g.169887995T>A NCBI36
NG_008859.1:g.5402A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.380A>T MANE Select ENSP00000037502.5:p.Glu127Val
ENST00000638471.1:c.130+250A>T ENSP00000491206.1:n.130+250A>T
ENST00000037502.10:c.380A>T ENSP00000037502.5:p.Glu127Val
ENST00000614688.1:c.380A>T ENSP00000478680.1:p.Glu127Val
NM_000261.1:c.380A>T NP_000252.1:p.Glu127Val
NM_000261.2:c.380A>T MANE Select NP_000252.1:p.Glu127Val