Canonical Allele Identifier: CA1244323

Gene: MYOC

Linked Data

• dbSNP Id: rs74315337
• ExAC: 1:171621616 G / T
• gnomAD v2: 1-171621616-G-T
• gnomAD v4: 1-171652476-G-T
• MyVariant Identifiers: chr1:g.171621616G>T (hg19) ; chr1:g.171652476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652476G>T , CM000663.2:g.171652476G>T	GRCh38
NC_000001.10:g.171621616G>T , CM000663.1:g.171621616G>T	GRCh37
NC_000001.9:g.169888239G>T	NCBI36
NG_008859.1:g.5158C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000037502.11:c.136C>A MANE Select	ENSP00000037502.5:p.Arg46=
ENST00000638471.1:c.130+6C>A	ENSP00000491206.1:n.130+6C>A
ENST00000037502.10:c.136C>A	ENSP00000037502.5:p.Arg46=
ENST00000614688.1:c.136C>A	ENSP00000478680.1:p.Arg46=
NM_000261.1:c.136C>A	NP_000252.1:p.Arg46=
NM_000261.2:c.136C>A MANE Select	NP_000252.1:p.Arg46=