Canonical Allele Identifier: CA343723223
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171605155G>C (hg19) chr1:g.171636015G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636015G>C , CM000663.2:g.171636015G>C GRCh38
NC_000001.10:g.171605155G>C , CM000663.1:g.171605155G>C GRCh37
NC_000001.9:g.169871778G>C NCBI36
NG_008859.1:g.21619C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1425C>G (MYOC) MANE Select ENSP00000037502.5:p.Ser475Arg
ENST00000637303.1:c.235-2615G>C (MYOCOS) ENSP00000490048.1:n.235-2615G>C
ENST00000638471.1:c.*763C>G (MYOC) ENSP00000491206.1:n.*763C>G
ENST00000037502.10:c.1425C>G (MYOC) ENSP00000037502.5:p.Ser475Arg
ENST00000614688.1:c.*389C>G (MYOC) ENSP00000478680.1:n.*389C>G
NM_000261.1:c.1425C>G (MYOC) NP_000252.1:p.Ser475Arg
NM_000261.2:c.1425C>G (MYOC) MANE Select NP_000252.1:p.Ser475Arg
Search 100 bp 5'
Search 100 bp 3'