Canonical Allele Identifier: CA645524329
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652310dup , CM000663.2:g.171652310dup GRCh38
NC_000001.10:g.171621450dup , CM000663.1:g.171621450dup GRCh37
NC_000001.9:g.169888073dup NCBI36
NG_008859.1:g.5325dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.303dup MANE Select ENSP00000037502.5:p.Leu102IlefsTer?
ENST00000638471.1:c.130+173dup ENSP00000491206.1:n.130+173dup
ENST00000037502.10:c.303dup ENSP00000037502.5:p.Leu102IlefsTer?
ENST00000614688.1:c.303dup ENSP00000478680.1:p.Leu102IlefsTer?
NM_000261.1:c.303dup NP_000252.1:p.Leu102IlefsTer?
NM_000261.2:c.303dup MANE Select NP_000252.1:p.Leu102IlefsTer?