Canonical Allele Identifier: CA1207016928
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1652930887
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636651_171636656del , CM000663.2:g.171636651_171636656del GRCh38
NC_000001.10:g.171605791_171605796del , CM000663.1:g.171605791_171605796del GRCh37
NC_000001.9:g.169872414_169872419del NCBI36
NG_008859.1:g.20980_20985del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.786_791del (MYOC) MANE Select ENSP00000037502.5:p.Ile263_Thr264del
ENST00000637303.1:c.235-1979_235-1974del (MYOCOS) ENSP00000490048.1:n.235-1979_235-1974del
ENST00000638471.1:c.*124_*129del (MYOC) ENSP00000491206.1:n.*124_*129del
ENST00000037502.10:c.786_791del (MYOC) ENSP00000037502.5:p.Ile263_Thr264del
ENST00000614688.1:c.786_791del (MYOC) ENSP00000478680.1:p.Ile263_Thr264del
NM_000261.1:c.786_791del (MYOC) NP_000252.1:p.Ile263_Thr264del
NM_000261.2:c.786_791del (MYOC) MANE Select NP_000252.1:p.Ile263_Thr264del
Search 100 bp 5'
Search 100 bp 3'