Canonical Allele Identifier: CA343718684

Gene: MYOC

Linked Data

• MyVariant Identifiers: chr1:g.171621421G>T (hg19) ; chr1:g.171652281G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652281G>T , CM000663.2:g.171652281G>T	GRCh38
NC_000001.10:g.171621421G>T , CM000663.1:g.171621421G>T	GRCh37
NC_000001.9:g.169888044G>T	NCBI36
NG_008859.1:g.5353C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.331C>A MANE Select	ENSP00000037502.5:p.Gln111Lys
ENST00000638471.1:c.130+201C>A	ENSP00000491206.1:n.130+201C>A
ENST00000037502.10:c.331C>A	ENSP00000037502.5:p.Gln111Lys
ENST00000614688.1:c.331C>A	ENSP00000478680.1:p.Gln111Lys
NM_000261.1:c.331C>A	NP_000252.1:p.Gln111Lys
NM_000261.2:c.331C>A MANE Select	NP_000252.1:p.Gln111Lys