Canonical Allele Identifier: CA343719720

Gene: MYOC

Linked Data

• MyVariant Identifiers: chr1:g.171621634C>G (hg19) ; chr1:g.171652494C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652494C>G , CM000663.2:g.171652494C>G	GRCh38
NC_000001.10:g.171621634C>G , CM000663.1:g.171621634C>G	GRCh37
NC_000001.9:g.169888257C>G	NCBI36
NG_008859.1:g.5140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.118G>C MANE Select	ENSP00000037502.5:p.Ala40Pro
ENST00000638471.1:c.118G>C	ENSP00000491206.1:p.Ala40Pro
ENST00000037502.10:c.118G>C	ENSP00000037502.5:p.Ala40Pro
ENST00000614688.1:c.118G>C	ENSP00000478680.1:p.Ala40Pro
NM_000261.1:c.118G>C	NP_000252.1:p.Ala40Pro
NM_000261.2:c.118G>C MANE Select	NP_000252.1:p.Ala40Pro