Canonical Allele Identifier: CA343724457

Gene: MYOC MYOCOS

Linked Data

• gnomAD v4: 1-171636272-C-T
• MyVariant Identifiers: chr1:g.171605412C>T (hg19) ; chr1:g.171636272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636272C>T , CM000663.2:g.171636272C>T	GRCh38
NC_000001.10:g.171605412C>T , CM000663.1:g.171605412C>T	GRCh37
NC_000001.9:g.169872035C>T	NCBI36
NG_008859.1:g.21362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1168G>A (MYOC) MANE Select	ENSP00000037502.5:p.Val390Ile
ENST00000637303.1:c.235-2358C>T (MYOCOS)	ENSP00000490048.1:n.235-2358C>T
ENST00000638471.1:c.*506G>A (MYOC)	ENSP00000491206.1:n.*506G>A
ENST00000037502.10:c.1168G>A (MYOC)	ENSP00000037502.5:p.Val390Ile
ENST00000614688.1:c.*132G>A (MYOC)	ENSP00000478680.1:n.*132G>A
NM_000261.1:c.1168G>A (MYOC)	NP_000252.1:p.Val390Ile
NM_000261.2:c.1168G>A (MYOC) MANE Select	NP_000252.1:p.Val390Ile