Canonical Allele Identifier: CA343718220

Gene: MYOC

Linked Data

• MyVariant Identifiers: chr1:g.171621264T>C (hg19) ; chr1:g.171652124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652124T>C , CM000663.2:g.171652124T>C	GRCh38
NC_000001.10:g.171621264T>C , CM000663.1:g.171621264T>C	GRCh37
NC_000001.9:g.169887887T>C	NCBI36
NG_008859.1:g.5510A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.488A>G MANE Select	ENSP00000037502.5:p.Asn163Ser
ENST00000638471.1:c.130+358A>G	ENSP00000491206.1:n.130+358A>G
ENST00000037502.10:c.488A>G	ENSP00000037502.5:p.Asn163Ser
ENST00000614688.1:c.488A>G	ENSP00000478680.1:p.Asn163Ser
NM_000261.1:c.488A>G	NP_000252.1:p.Asn163Ser
NM_000261.2:c.488A>G MANE Select	NP_000252.1:p.Asn163Ser