Allele Registry

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Canonical Allele Identifier: CA891115514

Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1178427149

gnomAD v3: 1-171651917-G-C

gnomAD v4: 1-171651917-G-C

MyVariant Identifiers: chr1:g.171621057G>C (hg19) chr1:g.171651917G>C (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171651917G>C , CM000663.2:g.171651917G>C	GRCh38
NC_000001.10:g.171621057G>C , CM000663.1:g.171621057G>C	GRCh37
NC_000001.9:g.169887680G>C	NCBI36
NG_008859.1:g.5717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.604+91C>G MANE Select	ENSP00000037502.5:n.604+91C>G
ENST00000638471.1:c.130+565C>G	ENSP00000491206.1:n.130+565C>G
ENST00000037502.10:c.604+91C>G	ENSP00000037502.5:n.604+91C>G
ENST00000614688.1:c.604+91C>G	ENSP00000478680.1:n.604+91C>G
NM_000261.1:c.604+91C>G	NP_000252.1:n.604+91C>G
NM_000261.2:c.604+91C>G MANE Select	NP_000252.1:n.604+91C>G

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