Canonical Allele Identifier: CA891115492
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs995407434
MyVariant Identifiers: chr1:g.171620956T>C (hg19) chr1:g.171651816T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171651816T>C , CM000663.2:g.171651816T>C GRCh38
NC_000001.10:g.171620956T>C , CM000663.1:g.171620956T>C GRCh37
NC_000001.9:g.169887579T>C NCBI36
NG_008859.1:g.5818A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.604+192A>G MANE Select ENSP00000037502.5:n.604+192A>G
ENST00000638471.1:c.130+666A>G ENSP00000491206.1:n.130+666A>G
ENST00000037502.10:c.604+192A>G ENSP00000037502.5:n.604+192A>G
ENST00000614688.1:c.604+192A>G ENSP00000478680.1:n.604+192A>G
NM_000261.1:c.604+192A>G NP_000252.1:n.604+192A>G
NM_000261.2:c.604+192A>G MANE Select NP_000252.1:n.604+192A>G
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