Canonical Allele Identifier: CA527264068
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1311968191
gnomAD v2: 1-171621044-T-G
gnomAD v3: 1-171651904-T-G
gnomAD v4: 1-171651904-T-G
MyVariant Identifiers: chr1:g.171621044T>G (hg19) chr1:g.171651904T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171651904T>G , CM000663.2:g.171651904T>G GRCh38
NC_000001.10:g.171621044T>G , CM000663.1:g.171621044T>G GRCh37
NC_000001.9:g.169887667T>G NCBI36
NG_008859.1:g.5730A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.604+104A>C MANE Select ENSP00000037502.5:n.604+104A>C
ENST00000638471.1:c.130+578A>C ENSP00000491206.1:n.130+578A>C
ENST00000037502.10:c.604+104A>C ENSP00000037502.5:n.604+104A>C
ENST00000614688.1:c.604+104A>C ENSP00000478680.1:n.604+104A>C
NM_000261.1:c.604+104A>C NP_000252.1:n.604+104A>C
NM_000261.2:c.604+104A>C MANE Select NP_000252.1:n.604+104A>C
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