Canonical Allele Identifier: CA343723438
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171636049-G-T
MyVariant Identifiers: chr1:g.171605189G>T (hg19) chr1:g.171636049G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636049G>T , CM000663.2:g.171636049G>T GRCh38
NC_000001.10:g.171605189G>T , CM000663.1:g.171605189G>T GRCh37
NC_000001.9:g.169871812G>T NCBI36
NG_008859.1:g.21585C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1391C>A (MYOC) MANE Select ENSP00000037502.5:p.Thr464Asn
ENST00000637303.1:c.235-2581G>T (MYOCOS) ENSP00000490048.1:n.235-2581G>T
ENST00000638471.1:c.*729C>A (MYOC) ENSP00000491206.1:n.*729C>A
ENST00000037502.10:c.1391C>A (MYOC) ENSP00000037502.5:p.Thr464Asn
ENST00000614688.1:c.*355C>A (MYOC) ENSP00000478680.1:n.*355C>A
NM_000261.1:c.1391C>A (MYOC) NP_000252.1:p.Thr464Asn
NM_000261.2:c.1391C>A (MYOC) MANE Select NP_000252.1:p.Thr464Asn
Search 100 bp 5'
Search 100 bp 3'