Canonical Allele Identifier: CA1244039
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs142680834
ExAC: 1:171605244 C / G
gnomAD v2: 1-171605244-C-G
gnomAD v4: 1-171636104-C-G
COSMIC: COSM5757952
MyVariant Identifiers: chr1:g.171605244C>G (hg19) chr1:g.171636104C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636104C>G , CM000663.2:g.171636104C>G GRCh38
NC_000001.10:g.171605244C>G , CM000663.1:g.171605244C>G GRCh37
NC_000001.9:g.169871867C>G NCBI36
NG_008859.1:g.21530G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1336G>C (MYOC) MANE Select ENSP00000037502.5:p.Asp446His
ENST00000637303.1:c.235-2526C>G (MYOCOS) ENSP00000490048.1:n.235-2526C>G
ENST00000638471.1:c.*674G>C (MYOC) ENSP00000491206.1:n.*674G>C
ENST00000037502.10:c.1336G>C (MYOC) ENSP00000037502.5:p.Asp446His
ENST00000614688.1:c.*300G>C (MYOC) ENSP00000478680.1:n.*300G>C
NM_000261.1:c.1336G>C (MYOC) NP_000252.1:p.Asp446His
NM_000261.2:c.1336G>C (MYOC) MANE Select NP_000252.1:p.Asp446His
Search 100 bp 5'
Search 100 bp 3'