Canonical Allele Identifier: CA343724281
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171605364G>C (hg19) chr1:g.171636224G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636224G>C , CM000663.2:g.171636224G>C GRCh38
NC_000001.10:g.171605364G>C , CM000663.1:g.171605364G>C GRCh37
NC_000001.9:g.169871987G>C NCBI36
NG_008859.1:g.21410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1216C>G (MYOC) MANE Select ENSP00000037502.5:p.Leu406Val
ENST00000637303.1:c.235-2406G>C (MYOCOS) ENSP00000490048.1:n.235-2406G>C
ENST00000638471.1:c.*554C>G (MYOC) ENSP00000491206.1:n.*554C>G
ENST00000037502.10:c.1216C>G (MYOC) ENSP00000037502.5:p.Leu406Val
ENST00000614688.1:c.*180C>G (MYOC) ENSP00000478680.1:n.*180C>G
NM_000261.1:c.1216C>G (MYOC) NP_000252.1:p.Leu406Val
NM_000261.2:c.1216C>G (MYOC) MANE Select NP_000252.1:p.Leu406Val
Search 100 bp 5'
Search 100 bp 3'