Canonical Allele Identifier: CA1244352

Gene: MYOC

Linked Data

• dbSNP Id: rs755231730
• ExAC: 1:171621793 G / C
• gnomAD v2: 1-171621793-G-C
• gnomAD v4: 1-171652653-G-C
• MyVariant Identifiers: chr1:g.171621793G>C (hg19) ; chr1:g.171652653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652653G>C , CM000663.2:g.171652653G>C	GRCh38
NC_000001.10:g.171621793G>C , CM000663.1:g.171621793G>C	GRCh37
NC_000001.9:g.169888416G>C	NCBI36
NG_008859.1:g.4981C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.-42C>G MANE Select	ENSP00000037502.5:n.-42C>G
ENST00000037502.10:c.-42C>G	ENSP00000037502.5:n.-42C>G
NM_000261.2:c.-42C>G MANE Select	NP_000252.1:n.-42C>G