Canonical Allele Identifier: CA343718650
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652272G>C , CM000663.2:g.171652272G>C GRCh38
NC_000001.10:g.171621412G>C , CM000663.1:g.171621412G>C GRCh37
NC_000001.9:g.169888035G>C NCBI36
NG_008859.1:g.5362C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.340C>G MANE Select ENSP00000037502.5:p.Gln114Glu
ENST00000638471.1:c.130+210C>G ENSP00000491206.1:n.130+210C>G
ENST00000037502.10:c.340C>G ENSP00000037502.5:p.Gln114Glu
ENST00000614688.1:c.340C>G ENSP00000478680.1:p.Gln114Glu
NM_000261.1:c.340C>G NP_000252.1:p.Gln114Glu
NM_000261.2:c.340C>G MANE Select NP_000252.1:p.Gln114Glu