Canonical Allele Identifier: CA343723351

Gene: MYOC MYOCOS

Linked Data

• gnomAD v4: 1-171636034-T-G
• MyVariant Identifiers: chr1:g.171605174T>G (hg19) ; chr1:g.171636034T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636034T>G , CM000663.2:g.171636034T>G	GRCh38
NC_000001.10:g.171605174T>G , CM000663.1:g.171605174T>G	GRCh37
NC_000001.9:g.169871797T>G	NCBI36
NG_008859.1:g.21600A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000037502.11:c.1406A>C (MYOC) MANE Select	ENSP00000037502.5:p.Asn469Thr
ENST00000637303.1:c.235-2596T>G (MYOCOS)	ENSP00000490048.1:n.235-2596T>G
ENST00000638471.1:c.*744A>C (MYOC)	ENSP00000491206.1:n.*744A>C
ENST00000037502.10:c.1406A>C (MYOC)	ENSP00000037502.5:p.Asn469Thr
ENST00000614688.1:c.*370A>C (MYOC)	ENSP00000478680.1:n.*370A>C
NM_000261.1:c.1406A>C (MYOC)	NP_000252.1:p.Asn469Thr
NM_000261.2:c.1406A>C (MYOC) MANE Select	NP_000252.1:p.Asn469Thr