Canonical Allele Identifier: CA1244067
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 293708
ClinVar RCV Id: RCV000337368 RCV000397533 RCV000972663 RCV002248513
dbSNP Id: rs61730975
ExAC: 1:171605392 C / T
gnomAD v2: 1-171605392-C-T
gnomAD v3: 1-171636252-C-T
gnomAD v4: 1-171636252-C-T
MyVariant Identifiers: chr1:g.171605392C>T (hg19) chr1:g.171636252C>T (hg38)
ERepo: CA1244067/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636252C>T , CM000663.2:g.171636252C>T GRCh38
NC_000001.10:g.171605392C>T , CM000663.1:g.171605392C>T GRCh37
NC_000001.9:g.169872015C>T NCBI36
NG_008859.1:g.21382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1188G>A (MYOC) MANE Select ENSP00000037502.5:p.Glu396=
ENST00000637303.1:c.235-2378C>T (MYOCOS) ENSP00000490048.1:n.235-2378C>T
ENST00000638471.1:c.*526G>A (MYOC) ENSP00000491206.1:n.*526G>A
ENST00000037502.10:c.1188G>A (MYOC) ENSP00000037502.5:p.Glu396=
ENST00000614688.1:c.*152G>A (MYOC) ENSP00000478680.1:n.*152G>A
NM_000261.1:c.1188G>A (MYOC) NP_000252.1:p.Glu396=
NM_000261.2:c.1188G>A (MYOC) MANE Select NP_000252.1:p.Glu396=
Search 100 bp 5'
Search 100 bp 3'