Canonical Allele Identifier: CA1244016
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs2234929
ExAC: 1:171605116 G / C
gnomAD v2: 1-171605116-G-C
gnomAD v4: 1-171635976-G-C
MyVariant Identifiers: chr1:g.171605116G>C (hg19) chr1:g.171635976G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635976G>C , CM000663.2:g.171635976G>C GRCh38
NC_000001.10:g.171605116G>C , CM000663.1:g.171605116G>C GRCh37
NC_000001.9:g.169871739G>C NCBI36
NG_008859.1:g.21658C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1464C>G (MYOC) MANE Select ENSP00000037502.5:p.Ala488=
ENST00000637303.1:c.235-2654G>C (MYOCOS) ENSP00000490048.1:n.235-2654G>C
ENST00000638471.1:c.*802C>G (MYOC) ENSP00000491206.1:n.*802C>G
ENST00000037502.10:c.1464C>G (MYOC) ENSP00000037502.5:p.Ala488=
ENST00000614688.1:c.*428C>G (MYOC) ENSP00000478680.1:n.*428C>G
NM_000261.1:c.1464C>G (MYOC) NP_000252.1:p.Ala488=
NM_000261.2:c.1464C>G (MYOC) MANE Select NP_000252.1:p.Ala488=
Search 100 bp 5'
Search 100 bp 3'