Canonical Allele Identifier: CA343718510
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652224G>T , CM000663.2:g.171652224G>T GRCh38
NC_000001.10:g.171621364G>T , CM000663.1:g.171621364G>T GRCh37
NC_000001.9:g.169887987G>T NCBI36
NG_008859.1:g.5410C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.388C>A MANE Select ENSP00000037502.5:p.Gln130Lys
ENST00000638471.1:c.130+258C>A ENSP00000491206.1:n.130+258C>A
ENST00000037502.10:c.388C>A ENSP00000037502.5:p.Gln130Lys
ENST00000614688.1:c.388C>A ENSP00000478680.1:p.Gln130Lys
NM_000261.1:c.388C>A NP_000252.1:p.Gln130Lys
NM_000261.2:c.388C>A MANE Select NP_000252.1:p.Gln130Lys