Canonical Allele Identifier: CA2274431932
Gene: COG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196525G= , CM000679.2:g.73196525G= GRCh38
NC_000017.10:g.71192664G= , CM000679.1:g.71192664G= GRCh37
NC_000017.9:g.68704259G= NCBI36
NG_008971.1:g.8492G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.334G= MANE Select ENSP00000299886.4:p.Glu112=
ENST00000299886.8:c.334G= ENSP00000299886.4:p.Glu112=
ENST00000438720.7:c.332G=
ENST00000582587.2:c.331G=
ENST00000618996.4:c.334G= ENSP00000479450.1:p.Glu112=
NM_018714.2:c.334G= NP_061184.1:p.Glu112=
NM_018714.3:c.334G= MANE Select NP_061184.1:p.Glu112=
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