Canonical Allele Identifier: CA2274431961

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196580A= , CM000679.2:g.73196580A=	GRCh38
NC_000017.10:g.71192719A= , CM000679.1:g.71192719A=	GRCh37
NC_000017.9:g.68704314A=	NCBI36
NG_008971.1:g.8547A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.389A= MANE Select	ENSP00000299886.4:p.Lys130=
ENST00000299886.8:c.389A=	ENSP00000299886.4:p.Lys130=
ENST00000438720.7:c.387A=
ENST00000582587.2:c.386A=
ENST00000618996.4:c.389A=	ENSP00000479450.1:p.Lys130=
NM_018714.2:c.389A=	NP_061184.1:p.Lys130=
NM_018714.3:c.389A= MANE Select	NP_061184.1:p.Lys130=