Canonical Allele Identifier: CA421938565
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171605581G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636441G>A , CM000663.2:g.171636441G>A GRCh38
NC_000001.10:g.171605581G>A , CM000663.1:g.171605581G>A GRCh37
NC_000001.9:g.169872204G>A NCBI36
NG_008859.1:g.21193C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.999C>T (MYOC) MANE Select ENSP00000037502.5:p.Ser333=
ENST00000637303.1:c.235-2189G>A (MYOCOS) ENSP00000490048.1:n.235-2189G>A
ENST00000638471.1:c.*337C>T (MYOC) ENSP00000491206.1:n.*337C>T
ENST00000037502.10:c.999C>T (MYOC) ENSP00000037502.5:p.Ser333=
ENST00000614688.1:c.999C>T (MYOC) ENSP00000478680.1:p.Ser333=
NM_000261.1:c.999C>T (MYOC) NP_000252.1:p.Ser333=
NM_000261.2:c.999C>T (MYOC) MANE Select NP_000252.1:p.Ser333=
Search 100 bp 5'
Search 100 bp 3'