Canonical Allele Identifier: CA343726280

Gene: MYOC MYOCOS

Linked Data

• MyVariant Identifiers: chr1:g.171605835C>T (hg19) ; chr1:g.171636695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636695C>T , CM000663.2:g.171636695C>T	GRCh38
NC_000001.10:g.171605835C>T , CM000663.1:g.171605835C>T	GRCh37
NC_000001.9:g.169872458C>T	NCBI36
NG_008859.1:g.20939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.745G>A (MYOC) MANE Select	ENSP00000037502.5:p.Val249Ile
ENST00000637303.1:c.235-1935C>T (MYOCOS)	ENSP00000490048.1:n.235-1935C>T
ENST00000638471.1:c.*83G>A (MYOC)	ENSP00000491206.1:n.*83G>A
ENST00000037502.10:c.745G>A (MYOC)	ENSP00000037502.5:p.Val249Ile
ENST00000614688.1:c.745G>A (MYOC)	ENSP00000478680.1:p.Val249Ile
NM_000261.1:c.745G>A (MYOC)	NP_000252.1:p.Val249Ile
NM_000261.2:c.745G>A (MYOC) MANE Select	NP_000252.1:p.Val249Ile