Canonical Allele Identifier: CA2649106534

Gene: MYOC

Linked Data

• gnomAD v4: 1-171651879-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171651879C>A , CM000663.2:g.171651879C>A	GRCh38
NC_000001.10:g.171621019C>A , CM000663.1:g.171621019C>A	GRCh37
NC_000001.9:g.169887642C>A	NCBI36
NG_008859.1:g.5755G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.604+129G>T MANE Select	ENSP00000037502.5:n.604+129G>T
ENST00000638471.1:c.130+603G>T	ENSP00000491206.1:n.130+603G>T
ENST00000037502.10:c.604+129G>T	ENSP00000037502.5:n.604+129G>T
ENST00000614688.1:c.604+129G>T	ENSP00000478680.1:n.604+129G>T
NM_000261.1:c.604+129G>T	NP_000252.1:n.604+129G>T
NM_000261.2:c.604+129G>T MANE Select	NP_000252.1:n.604+129G>T