Canonical Allele Identifier: CA2274431960

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196578G= , CM000679.2:g.73196578G=	GRCh38
NC_000017.10:g.71192717G= , CM000679.1:g.71192717G=	GRCh37
NC_000017.9:g.68704312G=	NCBI36
NG_008971.1:g.8545G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.387G= MANE Select	ENSP00000299886.4:p.Glu129=
ENST00000299886.8:c.387G=	ENSP00000299886.4:p.Glu129=
ENST00000438720.7:c.385G=
ENST00000582587.2:c.384G=
ENST00000618996.4:c.387G=	ENSP00000479450.1:p.Glu129=
NM_018714.2:c.387G=	NP_061184.1:p.Glu129=
NM_018714.3:c.387G= MANE Select	NP_061184.1:p.Glu129=