Canonical Allele Identifier: CA1244129
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs769406646
ExAC: 1:171605696 A / T
gnomAD v2: 1-171605696-A-T
gnomAD v3: 1-171636556-A-T
gnomAD v4: 1-171636556-A-T
MyVariant Identifiers: chr1:g.171605696A>T (hg19) chr1:g.171636556A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636556A>T , CM000663.2:g.171636556A>T GRCh38
NC_000001.10:g.171605696A>T , CM000663.1:g.171605696A>T GRCh37
NC_000001.9:g.169872319A>T NCBI36
NG_008859.1:g.21078T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.884T>A (MYOC) MANE Select ENSP00000037502.5:p.Val295Asp
ENST00000637303.1:c.235-2074A>T (MYOCOS) ENSP00000490048.1:n.235-2074A>T
ENST00000638471.1:c.*222T>A (MYOC) ENSP00000491206.1:n.*222T>A
ENST00000037502.10:c.884T>A (MYOC) ENSP00000037502.5:p.Val295Asp
ENST00000614688.1:c.884T>A (MYOC) ENSP00000478680.1:p.Val295Asp
NM_000261.1:c.884T>A (MYOC) NP_000252.1:p.Val295Asp
NM_000261.2:c.884T>A (MYOC) MANE Select NP_000252.1:p.Val295Asp
Search 100 bp 5'
Search 100 bp 3'