Canonical Allele Identifier: CA32686331

Gene: MYOC MYOCOS

Linked Data

• dbSNP Id: rs749608558
• gnomAD v2: 1-171605877-C-G
• gnomAD v3: 1-171636737-C-G
• gnomAD v4: 1-171636737-C-G
• MyVariant Identifiers: chr1:g.171605877C>G (hg19) ; chr1:g.171636737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636737C>G , CM000663.2:g.171636737C>G	GRCh38
NC_000001.10:g.171605877C>G , CM000663.1:g.171605877C>G	GRCh37
NC_000001.9:g.169872500C>G	NCBI36
NG_008859.1:g.20897G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.731-28G>C (MYOC) MANE Select	ENSP00000037502.5:n.731-28G>C
ENST00000637303.1:c.235-1893C>G (MYOCOS)	ENSP00000490048.1:n.235-1893C>G
ENST00000638471.1:c.*69-28G>C (MYOC)	ENSP00000491206.1:n.*69-28G>C
ENST00000037502.10:c.731-28G>C (MYOC)	ENSP00000037502.5:n.731-28G>C
ENST00000614688.1:c.731-28G>C (MYOC)	ENSP00000478680.1:n.731-28G>C
NM_000261.1:c.731-28G>C (MYOC)	NP_000252.1:n.731-28G>C
NM_000261.2:c.731-28G>C (MYOC) MANE Select	NP_000252.1:n.731-28G>C