Canonical Allele Identifier: CA1207023154
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1653370300
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652192_171652193del , CM000663.2:g.171652192_171652193del GRCh38
NC_000001.10:g.171621332_171621333del , CM000663.1:g.171621332_171621333del GRCh37
NC_000001.9:g.169887955_169887956del NCBI36
NG_008859.1:g.5441_5442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.419_420del MANE Select ENSP00000037502.5:p.Thr140SerfsTer24
ENST00000638471.1:c.130+289_130+290del ENSP00000491206.1:n.130+289_130+290del
ENST00000037502.10:c.419_420del ENSP00000037502.5:p.Thr140SerfsTer24
ENST00000614688.1:c.419_420del ENSP00000478680.1:p.Thr140SerfsTer24
NM_000261.1:c.419_420del NP_000252.1:p.Thr140SerfsTer24
NM_000261.2:c.419_420del MANE Select NP_000252.1:p.Thr140SerfsTer24
Search 100 bp 5'
Search 100 bp 3'