Canonical Allele Identifier: CA343722830
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171605082T>A (hg19) chr1:g.171635942T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635942T>A , CM000663.2:g.171635942T>A GRCh38
NC_000001.10:g.171605082T>A , CM000663.1:g.171605082T>A GRCh37
NC_000001.9:g.169871705T>A NCBI36
NG_008859.1:g.21692A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1498A>T (MYOC) MANE Select ENSP00000037502.5:p.Lys500Ter
ENST00000637303.1:c.235-2688T>A (MYOCOS) ENSP00000490048.1:n.235-2688T>A
ENST00000638471.1:c.*836A>T (MYOC) ENSP00000491206.1:n.*836A>T
ENST00000037502.10:c.1498A>T (MYOC) ENSP00000037502.5:p.Lys500Ter
ENST00000614688.1:c.*462A>T (MYOC) ENSP00000478680.1:n.*462A>T
NM_000261.1:c.1498A>T (MYOC) NP_000252.1:p.Lys500Ter
NM_000261.2:c.1498A>T (MYOC) MANE Select NP_000252.1:p.Lys500Ter
Search 100 bp 5'
Search 100 bp 3'