Canonical Allele Identifier: CA527265939
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1350792736
gnomAD v2: 1-171604746-G-A
gnomAD v3: 1-171635606-G-A
gnomAD v4: 1-171635606-G-A
MyVariant Identifiers: chr1:g.171604746G>A (hg19) chr1:g.171635606G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635606G>A , CM000663.2:g.171635606G>A GRCh38
NC_000001.10:g.171604746G>A , CM000663.1:g.171604746G>A GRCh37
NC_000001.9:g.169871369G>A NCBI36
NG_008859.1:g.22028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*319C>T (MYOC) MANE Select ENSP00000037502.5:n.*319C>T
ENST00000637303.1:c.235-3024G>A (MYOCOS) ENSP00000490048.1:n.235-3024G>A
ENST00000638471.1:c.*1172C>T (MYOC) ENSP00000491206.1:n.*1172C>T
ENST00000037502.10:c.*319C>T (MYOC) ENSP00000037502.5:n.*319C>T
ENST00000614688.1:c.*798C>T (MYOC) ENSP00000478680.1:n.*798C>T
NM_000261.1:c.*319C>T (MYOC) NP_000252.1:n.*319C>T
NM_000261.2:c.*319C>T (MYOC) MANE Select NP_000252.1:n.*319C>T
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Search 100 bp 3'