Canonical Allele Identifier: CA1244019
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs745712367
ExAC: 1:171605122 G / T
gnomAD v2: 1-171605122-G-T
gnomAD v4: 1-171635982-G-T
MyVariant Identifiers: chr1:g.171605122G>T (hg19) chr1:g.171635982G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635982G>T , CM000663.2:g.171635982G>T GRCh38
NC_000001.10:g.171605122G>T , CM000663.1:g.171605122G>T GRCh37
NC_000001.9:g.169871745G>T NCBI36
NG_008859.1:g.21652C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1458C>A (MYOC) MANE Select ENSP00000037502.5:p.Leu486=
ENST00000637303.1:c.235-2648G>T (MYOCOS) ENSP00000490048.1:n.235-2648G>T
ENST00000638471.1:c.*796C>A (MYOC) ENSP00000491206.1:n.*796C>A
ENST00000037502.10:c.1458C>A (MYOC) ENSP00000037502.5:p.Leu486=
ENST00000614688.1:c.*422C>A (MYOC) ENSP00000478680.1:n.*422C>A
NM_000261.1:c.1458C>A (MYOC) NP_000252.1:p.Leu486=
NM_000261.2:c.1458C>A (MYOC) MANE Select NP_000252.1:p.Leu486=
Search 100 bp 5'
Search 100 bp 3'