Canonical Allele Identifier: CA1207023147

Gene: MYOC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652179G= , CM000663.2:g.171652179G=	GRCh38
NC_000001.10:g.171621319G= , CM000663.1:g.171621319G=	GRCh37
NC_000001.9:g.169887942G=	NCBI36
NG_008859.1:g.5455C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.433C= MANE Select	ENSP00000037502.5:p.Leu145=
ENST00000638471.1:c.130+303C=	ENSP00000491206.1:n.130+303C=
ENST00000037502.10:c.433C=	ENSP00000037502.5:p.Leu145=
ENST00000614688.1:c.433C=	ENSP00000478680.1:p.Leu145=
NM_000261.1:c.433C=	NP_000252.1:p.Leu145=
NM_000261.2:c.433C= MANE Select	NP_000252.1:p.Leu145=