Canonical Allele Identifier: CA1207016837
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1652922351
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636410_171636411dup , CM000663.2:g.171636410_171636411dup GRCh38
NC_000001.10:g.171605550_171605551dup , CM000663.1:g.171605550_171605551dup GRCh37
NC_000001.9:g.169872173_169872174dup NCBI36
NG_008859.1:g.21224_21225dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1030_1031dup (MYOC) MANE Select ENSP00000037502.5:p.Ile345SerfsTer2
ENST00000637303.1:c.235-2220_235-2219dup (MYOCOS) ENSP00000490048.1:n.235-2220_235-2219dup
ENST00000638471.1:c.*368_*369dup (MYOC) ENSP00000491206.1:n.*368_*369dup
ENST00000037502.10:c.1030_1031dup (MYOC) ENSP00000037502.5:p.Ile345SerfsTer2
ENST00000614688.1:c.1029_1030dup (MYOC) ENSP00000478680.1:p.Ser344CysfsTer5
NM_000261.1:c.1030_1031dup (MYOC) NP_000252.1:p.Ile345SerfsTer2
NM_000261.2:c.1030_1031dup (MYOC) MANE Select NP_000252.1:p.Ile345SerfsTer2
Search 100 bp 5'
Search 100 bp 3'