Canonical Allele Identifier: CA1244102

Gene: MYOC MYOCOS

Linked Data

• ClinVar Variation Id: 293710
• ClinVar RCV Id: RCV000311074 ; RCV000368089 ; RCV003233544
• dbSNP Id: rs775982158
• ExAC: 1:171605588 G / A
• gnomAD v2: 1-171605588-G-A
• gnomAD v3: 1-171636448-G-A
• gnomAD v4: 1-171636448-G-A
• MyVariant Identifiers: chr1:g.171605588G>A (hg19) ; chr1:g.171636448G>A (hg38)
• ERepo: CA1244102/MONDO:0007665/019

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636448G>A , CM000663.2:g.171636448G>A	GRCh38
NC_000001.10:g.171605588G>A , CM000663.1:g.171605588G>A	GRCh37
NC_000001.9:g.169872211G>A	NCBI36
NG_008859.1:g.21186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.992C>T (MYOC) MANE Select	ENSP00000037502.5:p.Ser331Leu
ENST00000637303.1:c.235-2182G>A (MYOCOS)	ENSP00000490048.1:n.235-2182G>A
ENST00000638471.1:c.*330C>T (MYOC)	ENSP00000491206.1:n.*330C>T
ENST00000037502.10:c.992C>T (MYOC)	ENSP00000037502.5:p.Ser331Leu
ENST00000614688.1:c.992C>T (MYOC)	ENSP00000478680.1:p.Ser331Leu
NM_000261.1:c.992C>T (MYOC)	NP_000252.1:p.Ser331Leu
NM_000261.2:c.992C>T (MYOC) MANE Select	NP_000252.1:p.Ser331Leu