Canonical Allele Identifier: CA343725683
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171636554-G-C
MyVariant Identifiers: chr1:g.171605694G>C (hg19) chr1:g.171636554G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636554G>C , CM000663.2:g.171636554G>C GRCh38
NC_000001.10:g.171605694G>C , CM000663.1:g.171605694G>C GRCh37
NC_000001.9:g.169872317G>C NCBI36
NG_008859.1:g.21080C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.886C>G (MYOC) MANE Select ENSP00000037502.5:p.Arg296Gly
ENST00000637303.1:c.235-2076G>C (MYOCOS) ENSP00000490048.1:n.235-2076G>C
ENST00000638471.1:c.*224C>G (MYOC) ENSP00000491206.1:n.*224C>G
ENST00000037502.10:c.886C>G (MYOC) ENSP00000037502.5:p.Arg296Gly
ENST00000614688.1:c.886C>G (MYOC) ENSP00000478680.1:p.Arg296Gly
NM_000261.1:c.886C>G (MYOC) NP_000252.1:p.Arg296Gly
NM_000261.2:c.886C>G (MYOC) MANE Select NP_000252.1:p.Arg296Gly
Search 100 bp 5'
Search 100 bp 3'