Canonical Allele Identifier: CA343724175
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1572210597
MyVariant Identifiers: chr1:g.171605334T>G (hg19) chr1:g.171636194T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636194T>G , CM000663.2:g.171636194T>G GRCh38
NC_000001.10:g.171605334T>G , CM000663.1:g.171605334T>G GRCh37
NC_000001.9:g.169871957T>G NCBI36
NG_008859.1:g.21440A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1246A>C (MYOC) MANE Select ENSP00000037502.5:p.Thr416Pro
ENST00000637303.1:c.235-2436T>G (MYOCOS) ENSP00000490048.1:n.235-2436T>G
ENST00000638471.1:c.*584A>C (MYOC) ENSP00000491206.1:n.*584A>C
ENST00000037502.10:c.1246A>C (MYOC) ENSP00000037502.5:p.Thr416Pro
ENST00000614688.1:c.*210A>C (MYOC) ENSP00000478680.1:n.*210A>C
NM_000261.1:c.1246A>C (MYOC) NP_000252.1:p.Thr416Pro
NM_000261.2:c.1246A>C (MYOC) MANE Select NP_000252.1:p.Thr416Pro
Search 100 bp 5'
Search 100 bp 3'