Canonical Allele Identifier: CA343718248
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652130T>A , CM000663.2:g.171652130T>A GRCh38
NC_000001.10:g.171621270T>A , CM000663.1:g.171621270T>A GRCh37
NC_000001.9:g.169887893T>A NCBI36
NG_008859.1:g.5504A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.482A>T MANE Select ENSP00000037502.5:p.Gln161Leu
ENST00000638471.1:c.130+352A>T ENSP00000491206.1:n.130+352A>T
ENST00000037502.10:c.482A>T ENSP00000037502.5:p.Gln161Leu
ENST00000614688.1:c.482A>T ENSP00000478680.1:p.Gln161Leu
NM_000261.1:c.482A>T NP_000252.1:p.Gln161Leu
NM_000261.2:c.482A>T MANE Select NP_000252.1:p.Gln161Leu