Canonical Allele Identifier: CA343726256
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2442286
ClinVar RCV Id: RCV003148615
dbSNP Id: rs1176798762
MyVariant Identifiers: chr1:g.171605823C>T (hg19) chr1:g.171636683C>T (hg38)
ERepo: CA343726256/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636683C>T , CM000663.2:g.171636683C>T GRCh38
NC_000001.10:g.171605823C>T , CM000663.1:g.171605823C>T GRCh37
NC_000001.9:g.169872446C>T NCBI36
NG_008859.1:g.20951G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.757G>A (MYOC) MANE Select ENSP00000037502.5:p.Glu253Lys
ENST00000637303.1:c.235-1947C>T (MYOCOS) ENSP00000490048.1:n.235-1947C>T
ENST00000638471.1:c.*95G>A (MYOC) ENSP00000491206.1:n.*95G>A
ENST00000037502.10:c.757G>A (MYOC) ENSP00000037502.5:p.Glu253Lys
ENST00000614688.1:c.757G>A (MYOC) ENSP00000478680.1:p.Glu253Lys
NM_000261.1:c.757G>A (MYOC) NP_000252.1:p.Glu253Lys
NM_000261.2:c.757G>A (MYOC) MANE Select NP_000252.1:p.Glu253Lys
Search 100 bp 5'
Search 100 bp 3'