Canonical Allele Identifier: CA1207016946
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636698G= , CM000663.2:g.171636698G= GRCh38
NC_000001.10:g.171605838G= , CM000663.1:g.171605838G= GRCh37
NC_000001.9:g.169872461G= NCBI36
NG_008859.1:g.20936C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.742C= (MYOC) MANE Select ENSP00000037502.5:p.Leu248=
ENST00000637303.1:c.235-1932G= (MYOCOS) ENSP00000490048.1:n.235-1932G=
ENST00000638471.1:c.*80C= (MYOC) ENSP00000491206.1:n.*80C=
ENST00000037502.10:c.742C= (MYOC) ENSP00000037502.5:p.Leu248=
ENST00000614688.1:c.742C= (MYOC) ENSP00000478680.1:p.Leu248=
NM_000261.1:c.742C= (MYOC) NP_000252.1:p.Leu248=
NM_000261.2:c.742C= (MYOC) MANE Select NP_000252.1:p.Leu248=
Search 100 bp 5'
Search 100 bp 3'