Canonical Allele Identifier: CA343723522
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171605204A>T (hg19) chr1:g.171636064A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636064A>T , CM000663.2:g.171636064A>T GRCh38
NC_000001.10:g.171605204A>T , CM000663.1:g.171605204A>T GRCh37
NC_000001.9:g.169871827A>T NCBI36
NG_008859.1:g.21570T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1376T>A (MYOC) MANE Select ENSP00000037502.5:p.Ile459Asn
ENST00000637303.1:c.235-2566A>T (MYOCOS) ENSP00000490048.1:n.235-2566A>T
ENST00000638471.1:c.*714T>A (MYOC) ENSP00000491206.1:n.*714T>A
ENST00000037502.10:c.1376T>A (MYOC) ENSP00000037502.5:p.Ile459Asn
ENST00000614688.1:c.*340T>A (MYOC) ENSP00000478680.1:n.*340T>A
NM_000261.1:c.1376T>A (MYOC) NP_000252.1:p.Ile459Asn
NM_000261.2:c.1376T>A (MYOC) MANE Select NP_000252.1:p.Ile459Asn
Search 100 bp 5'
Search 100 bp 3'