Canonical Allele Identifier: CA1244091

Gene: MYOC MYOCOS

Linked Data

• ClinVar Variation Id: 293709
• ClinVar RCV Id: RCV000297747 ; RCV000397534 ; RCV000427737 ; RCV001838615 ; RCV002061159
• dbSNP Id: rs61730974
• ExAC: 1:171605539 A / G
• gnomAD v2: 1-171605539-A-G
• gnomAD v3: 1-171636399-A-G
• gnomAD v4: 1-171636399-A-G
• MyVariant Identifiers: chr1:g.171605539A>G (hg19) ; chr1:g.171636399A>G (hg38)
• ERepo: CA1244091/MONDO:0020367/019

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636399A>G , CM000663.2:g.171636399A>G	GRCh38
NC_000001.10:g.171605539A>G , CM000663.1:g.171605539A>G	GRCh37
NC_000001.9:g.169872162A>G	NCBI36
NG_008859.1:g.21235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1041T>C (MYOC) MANE Select	ENSP00000037502.5:p.Tyr347=
ENST00000637303.1:c.235-2231A>G (MYOCOS)	ENSP00000490048.1:n.235-2231A>G
ENST00000638471.1:c.*379T>C (MYOC)	ENSP00000491206.1:n.*379T>C
ENST00000037502.10:c.1041T>C (MYOC)	ENSP00000037502.5:p.Tyr347=
ENST00000614688.1:c.*5T>C (MYOC)	ENSP00000478680.1:n.*5T>C
NM_000261.1:c.1041T>C (MYOC)	NP_000252.1:p.Tyr347=
NM_000261.2:c.1041T>C (MYOC) MANE Select	NP_000252.1:p.Tyr347=