Canonical Allele Identifier: CA2274431966

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196586G= , CM000679.2:g.73196586G=	GRCh38
NC_000017.10:g.71192725G= , CM000679.1:g.71192725G=	GRCh37
NC_000017.9:g.68704320G=	NCBI36
NG_008971.1:g.8553G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.395G= MANE Select	ENSP00000299886.4:p.Trp132=
ENST00000299886.8:c.395G=	ENSP00000299886.4:p.Trp132=
ENST00000438720.7:c.393G=
ENST00000582587.2:c.392G=
ENST00000618996.4:c.395G=	ENSP00000479450.1:p.Trp132=
NM_018714.2:c.395G=	NP_061184.1:p.Trp132=
NM_018714.3:c.395G= MANE Select	NP_061184.1:p.Trp132=