Canonical Allele Identifier: CA421939259

Gene: MYOC MYOCOS

Linked Data

• MyVariant Identifiers: chr1:g.171605836_171605839del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636697_171636700del , CM000663.2:g.171636697_171636700del	GRCh38
NC_000001.10:g.171605837_171605840del , CM000663.1:g.171605837_171605840del	GRCh37
NC_000001.9:g.169872460_169872463del	NCBI36
NG_008859.1:g.20935_20938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.741_744del (MYOC) MANE Select	ENSP00000037502.5:p.Leu248PhefsTer3
ENST00000637303.1:c.235-1933_235-1930del (MYOCOS)	ENSP00000490048.1:n.235-1933_235-1930del
ENST00000638471.1:c.*79_*82del (MYOC)	ENSP00000491206.1:n.*79_*82del
ENST00000037502.10:c.741_744del (MYOC)	ENSP00000037502.5:p.Leu248PhefsTer3
ENST00000614688.1:c.741_744del (MYOC)	ENSP00000478680.1:p.Leu248PhefsTer3
NM_000261.1:c.741_744del (MYOC)	NP_000252.1:p.Leu248PhefsTer3
NM_000261.2:c.741_744del (MYOC) MANE Select	NP_000252.1:p.Leu248PhefsTer3