Canonical Allele Identifier: CA2746620362

Gene: MYOC MYOCOS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636161_171636162del , CM000663.2:g.171636161_171636162del	GRCh38
NC_000001.10:g.171605301_171605302del , CM000663.1:g.171605301_171605302del	GRCh37
NC_000001.9:g.169871924_169871925del	NCBI36
NG_008859.1:g.21473_21474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1279_1280del (MYOC) MANE Select	ENSP00000037502.5:p.Ala427GlnfsTer27
ENST00000637303.1:c.235-2469_235-2468del (MYOCOS)	ENSP00000490048.1:n.235-2469_235-2468del
ENST00000638471.1:c.*617_*618del (MYOC)	ENSP00000491206.1:n.*617_*618del
ENST00000037502.10:c.1279_1280del (MYOC)	ENSP00000037502.5:p.Ala427GlnfsTer27
ENST00000614688.1:c.*243_*244del (MYOC)	ENSP00000478680.1:n.*243_*244del
NM_000261.1:c.1279_1280del (MYOC)	NP_000252.1:p.Ala427GlnfsTer27
NM_000261.2:c.1279_1280del (MYOC) MANE Select	NP_000252.1:p.Ala427GlnfsTer27