Canonical Allele Identifier: CA343719021
Gene: MYOC HGNC NCBI

Linked Data

COSMIC: COSM6122730
MyVariant Identifiers: chr1:g.171621514T>A (hg19) chr1:g.171652374T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652374T>A , CM000663.2:g.171652374T>A GRCh38
NC_000001.10:g.171621514T>A , CM000663.1:g.171621514T>A GRCh37
NC_000001.9:g.169888137T>A NCBI36
NG_008859.1:g.5260A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.238A>T MANE Select ENSP00000037502.5:p.Thr80Ser
ENST00000638471.1:c.130+108A>T ENSP00000491206.1:n.130+108A>T
ENST00000037502.10:c.238A>T ENSP00000037502.5:p.Thr80Ser
ENST00000614688.1:c.238A>T ENSP00000478680.1:p.Thr80Ser
NM_000261.1:c.238A>T NP_000252.1:p.Thr80Ser
NM_000261.2:c.238A>T MANE Select NP_000252.1:p.Thr80Ser
Search 100 bp 5'
Search 100 bp 3'