Canonical Allele Identifier: CA1148470091

Gene: MYOC MYOCOS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636022_171636027delinsTACTTA , CM000663.2:g.171636022_171636027delinsTACTTA	GRCh38
NC_000001.10:g.171605162_171605167delinsTACTTA , CM000663.1:g.171605162_171605167delinsTACTTA	GRCh37
NC_000001.9:g.169871785_169871790delinsTACTTA	NCBI36
NG_008859.1:g.21607_21612delinsTAAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1413_1418delinsTAAGTA (MYOC) MANE Select	ENSP00000037502.5:p.Tyr471=
ENST00000637303.1:c.235-2608_235-2603delinsTACTTA (MYOCOS)	ENSP00000490048.1:n.235-2608_235-2603delinsTACTTA
ENST00000638471.1:c.*751_*756delinsTAAGTA (MYOC)	ENSP00000491206.1:n.*751_*756delinsTAAGTA
ENST00000037502.10:c.1413_1418delinsTAAGTA (MYOC)	ENSP00000037502.5:p.Tyr471=
ENST00000614688.1:c.*377_*382delinsTAAGTA (MYOC)	ENSP00000478680.1:n.*377_*382delinsTAAGTA
NM_000261.1:c.1413_1418delinsTAAGTA (MYOC)	NP_000252.1:p.Tyr471=
NM_000261.2:c.1413_1418delinsTAAGTA (MYOC) MANE Select	NP_000252.1:p.Tyr471=