Canonical Allele Identifier: CA343723138
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 1686790
ClinVar RCV Id: RCV002248295
dbSNP Id: rs2102944466
MyVariant Identifiers: chr1:g.171605138G>C (hg19) chr1:g.171635998G>C (hg38)
ERepo: CA343723138/MONDO:0007665/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635998G>C , CM000663.2:g.171635998G>C GRCh38
NC_000001.10:g.171605138G>C , CM000663.1:g.171605138G>C GRCh37
NC_000001.9:g.169871761G>C NCBI36
NG_008859.1:g.21636C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1442C>G (MYOC) MANE Select ENSP00000037502.5:p.Pro481Arg
ENST00000637303.1:c.235-2632G>C (MYOCOS) ENSP00000490048.1:n.235-2632G>C
ENST00000638471.1:c.*780C>G (MYOC) ENSP00000491206.1:n.*780C>G
ENST00000037502.10:c.1442C>G (MYOC) ENSP00000037502.5:p.Pro481Arg
ENST00000614688.1:c.*406C>G (MYOC) ENSP00000478680.1:n.*406C>G
NM_000261.1:c.1442C>G (MYOC) NP_000252.1:p.Pro481Arg
NM_000261.2:c.1442C>G (MYOC) MANE Select NP_000252.1:p.Pro481Arg
Search 100 bp 5'
Search 100 bp 3'