Canonical Allele Identifier: CA343726122

Gene: MYOC MYOCOS

Linked Data

• MyVariant Identifiers: chr1:g.171605789G>T (hg19) ; chr1:g.171636649G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636649G>T , CM000663.2:g.171636649G>T	GRCh38
NC_000001.10:g.171605789G>T , CM000663.1:g.171605789G>T	GRCh37
NC_000001.9:g.169872412G>T	NCBI36
NG_008859.1:g.20985C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.791C>A (MYOC) MANE Select	ENSP00000037502.5:p.Thr264Asn
ENST00000637303.1:c.235-1981G>T (MYOCOS)	ENSP00000490048.1:n.235-1981G>T
ENST00000638471.1:c.*129C>A (MYOC)	ENSP00000491206.1:n.*129C>A
ENST00000037502.10:c.791C>A (MYOC)	ENSP00000037502.5:p.Thr264Asn
ENST00000614688.1:c.791C>A (MYOC)	ENSP00000478680.1:p.Thr264Asn
NM_000261.1:c.791C>A (MYOC)	NP_000252.1:p.Thr264Asn
NM_000261.2:c.791C>A (MYOC) MANE Select	NP_000252.1:p.Thr264Asn