Canonical Allele Identifier: CA32666071
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1057118778
gnomAD v3: 1-171651860-C-T
gnomAD v4: 1-171651860-C-T
MyVariant Identifiers: chr1:g.171621000C>T (hg19) chr1:g.171651860C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171651860C>T , CM000663.2:g.171651860C>T GRCh38
NC_000001.10:g.171621000C>T , CM000663.1:g.171621000C>T GRCh37
NC_000001.9:g.169887623C>T NCBI36
NG_008859.1:g.5774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.604+148G>A MANE Select ENSP00000037502.5:n.604+148G>A
ENST00000638471.1:c.130+622G>A ENSP00000491206.1:n.130+622G>A
ENST00000037502.10:c.604+148G>A ENSP00000037502.5:n.604+148G>A
ENST00000614688.1:c.604+148G>A ENSP00000478680.1:n.604+148G>A
NM_000261.1:c.604+148G>A NP_000252.1:n.604+148G>A
NM_000261.2:c.604+148G>A MANE Select NP_000252.1:n.604+148G>A
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