Canonical Allele Identifier: CA343723118

Gene: MYOC MYOCOS

Linked Data

• gnomAD v4: 1-171635993-C-T
• MyVariant Identifiers: chr1:g.171605133C>T (hg19) ; chr1:g.171635993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171635993C>T , CM000663.2:g.171635993C>T	GRCh38
NC_000001.10:g.171605133C>T , CM000663.1:g.171605133C>T	GRCh37
NC_000001.9:g.169871756C>T	NCBI36
NG_008859.1:g.21641G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000037502.11:c.1447G>A (MYOC) MANE Select	ENSP00000037502.5:p.Glu483Lys
ENST00000637303.1:c.235-2637C>T (MYOCOS)	ENSP00000490048.1:n.235-2637C>T
ENST00000638471.1:c.*785G>A (MYOC)	ENSP00000491206.1:n.*785G>A
ENST00000037502.10:c.1447G>A (MYOC)	ENSP00000037502.5:p.Glu483Lys
ENST00000614688.1:c.*411G>A (MYOC)	ENSP00000478680.1:n.*411G>A
NM_000261.1:c.1447G>A (MYOC)	NP_000252.1:p.Glu483Lys
NM_000261.2:c.1447G>A (MYOC) MANE Select	NP_000252.1:p.Glu483Lys