Canonical Allele Identifier: CA1244035

Gene: MYOC MYOCOS

Linked Data

• ClinVar Variation Id: 875033
• ClinVar RCV Id: RCV001098516 ; RCV001098517
• dbSNP Id: rs572512491
• ExAC: 1:171605235 C / T
• gnomAD v2: 1-171605235-C-T
• gnomAD v3: 1-171636095-C-T
• gnomAD v4: 1-171636095-C-T
• COSMIC: COSM899599
• MyVariant Identifiers: chr1:g.171605235C>T (hg19) ; chr1:g.171636095C>T (hg38)
• ERepo: CA1244035/MONDO:0007665/019

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636095C>T , CM000663.2:g.171636095C>T	GRCh38
NC_000001.10:g.171605235C>T , CM000663.1:g.171605235C>T	GRCh37
NC_000001.9:g.169871858C>T	NCBI36
NG_008859.1:g.21539G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000037502.11:c.1345G>A (MYOC) MANE Select	ENSP00000037502.5:p.Val449Ile
ENST00000637303.1:c.235-2535C>T (MYOCOS)	ENSP00000490048.1:n.235-2535C>T
ENST00000638471.1:c.*683G>A (MYOC)	ENSP00000491206.1:n.*683G>A
ENST00000037502.10:c.1345G>A (MYOC)	ENSP00000037502.5:p.Val449Ile
ENST00000614688.1:c.*309G>A (MYOC)	ENSP00000478680.1:n.*309G>A
NM_000261.1:c.1345G>A (MYOC)	NP_000252.1:p.Val449Ile
NM_000261.2:c.1345G>A (MYOC) MANE Select	NP_000252.1:p.Val449Ile