Canonical Allele Identifier: CA343719642

Gene: MYOC

Linked Data

• MyVariant Identifiers: chr1:g.171621621C>A (hg19) ; chr1:g.171652481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652481C>A , CM000663.2:g.171652481C>A	GRCh38
NC_000001.10:g.171621621C>A , CM000663.1:g.171621621C>A	GRCh37
NC_000001.9:g.169888244C>A	NCBI36
NG_008859.1:g.5153G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.131G>T MANE Select	ENSP00000037502.5:p.Ser44Ile
ENST00000638471.1:c.130+1G>T	ENSP00000491206.1:n.130+1G>T
ENST00000037502.10:c.131G>T	ENSP00000037502.5:p.Ser44Ile
ENST00000614688.1:c.131G>T	ENSP00000478680.1:p.Ser44Ile
NM_000261.1:c.131G>T	NP_000252.1:p.Ser44Ile
NM_000261.2:c.131G>T MANE Select	NP_000252.1:p.Ser44Ile