Canonical Allele Identifier: CA1207016719

Gene: MYOC MYOCOS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636021_171636025delinsGTACT , CM000663.2:g.171636021_171636025delinsGTACT	GRCh38
NC_000001.10:g.171605161_171605165delinsGTACT , CM000663.1:g.171605161_171605165delinsGTACT	GRCh37
NC_000001.9:g.169871784_169871788delinsGTACT	NCBI36
NG_008859.1:g.21609_21613delinsAGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1415_1419delinsAGTAC (MYOC) MANE Select	ENSP00000037502.5:p.Lys472=
ENST00000637303.1:c.235-2609_235-2605delinsGTACT (MYOCOS)	ENSP00000490048.1:n.235-2609_235-2605delinsGTACT
ENST00000638471.1:c.*753_*757delinsAGTAC (MYOC)	ENSP00000491206.1:n.*753_*757delinsAGTAC
ENST00000037502.10:c.1415_1419delinsAGTAC (MYOC)	ENSP00000037502.5:p.Lys472=
ENST00000614688.1:c.*379_*383delinsAGTAC (MYOC)	ENSP00000478680.1:n.*379_*383delinsAGTAC
NM_000261.1:c.1415_1419delinsAGTAC (MYOC)	NP_000252.1:p.Lys472=
NM_000261.2:c.1415_1419delinsAGTAC (MYOC) MANE Select	NP_000252.1:p.Lys472=