Canonical Allele Identifier: CA1244271

Gene: MYOC

Linked Data

• ClinVar Variation Id: 293717
• ClinVar RCV Id: RCV000312787 ; RCV000390810 ; RCV000946526 ; RCV001824159
• dbSNP Id: rs61730977
• ExAC: 1:171621275 T / C
• gnomAD v2: 1-171621275-T-C
• gnomAD v3: 1-171652135-T-C
• gnomAD v4: 1-171652135-T-C
• MyVariant Identifiers: chr1:g.171621275T>C (hg19) ; chr1:g.171652135T>C (hg38)
• ERepo: CA1244271/MONDO:0020367/019

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652135T>C , CM000663.2:g.171652135T>C	GRCh38
NC_000001.10:g.171621275T>C , CM000663.1:g.171621275T>C	GRCh37
NC_000001.9:g.169887898T>C	NCBI36
NG_008859.1:g.5499A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.477A>G MANE Select	ENSP00000037502.5:p.Leu159=
ENST00000638471.1:c.130+347A>G	ENSP00000491206.1:n.130+347A>G
ENST00000037502.10:c.477A>G	ENSP00000037502.5:p.Leu159=
ENST00000614688.1:c.477A>G	ENSP00000478680.1:p.Leu159=
NM_000261.1:c.477A>G	NP_000252.1:p.Leu159=
NM_000261.2:c.477A>G MANE Select	NP_000252.1:p.Leu159=