Canonical Allele Identifier: CA421939259
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171605836_171605839del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636697_171636700del , CM000663.2:g.171636697_171636700del GRCh38
NC_000001.10:g.171605837_171605840del , CM000663.1:g.171605837_171605840del GRCh37
NC_000001.9:g.169872460_169872463del NCBI36
NG_008859.1:g.20935_20938del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.741_744del (MYOC) MANE Select ENSP00000037502.5:p.Leu248PhefsTer3
ENST00000637303.1:c.235-1933_235-1930del (MYOCOS) ENSP00000490048.1:n.235-1933_235-1930del
ENST00000638471.1:c.*79_*82del (MYOC) ENSP00000491206.1:n.*79_*82del
ENST00000037502.10:c.741_744del (MYOC) ENSP00000037502.5:p.Leu248PhefsTer3
ENST00000614688.1:c.741_744del (MYOC) ENSP00000478680.1:p.Leu248PhefsTer3
NM_000261.1:c.741_744del (MYOC) NP_000252.1:p.Leu248PhefsTer3
NM_000261.2:c.741_744del (MYOC) MANE Select NP_000252.1:p.Leu248PhefsTer3
Search 100 bp 5'
Search 100 bp 3'