Canonical Allele Identifier: CA502026184
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192666G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196527G>A , CM000679.2:g.73196527G>A GRCh38
NC_000017.10:g.71192666G>A , CM000679.1:g.71192666G>A GRCh37
NC_000017.9:g.68704261G>A NCBI36
NG_008971.1:g.8494G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.336G>A MANE Select ENSP00000299886.4:p.Glu112=
ENST00000299886.8:c.336G>A ENSP00000299886.4:p.Glu112=
ENST00000438720.7:c.334G>A
ENST00000582587.2:c.333G>A
ENST00000618996.4:c.336G>A ENSP00000479450.1:p.Glu112=
NM_018714.2:c.336G>A NP_061184.1:p.Glu112=
NM_018714.3:c.336G>A MANE Select NP_061184.1:p.Glu112=