Canonical Allele Identifier: CA2274431985

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196630T= , CM000679.2:g.73196630T=	GRCh38
NC_000017.10:g.71192769T= , CM000679.1:g.71192769T=	GRCh37
NC_000017.9:g.68704364T=	NCBI36
NG_008971.1:g.8597T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.439T= MANE Select	ENSP00000299886.4:p.Tyr147=
ENST00000299886.8:c.439T=	ENSP00000299886.4:p.Tyr147=
ENST00000438720.7:c.437T=
ENST00000582587.2:c.436T=
ENST00000618996.4:c.439T=	ENSP00000479450.1:p.Tyr147=
NM_018714.2:c.439T=	NP_061184.1:p.Tyr147=
NM_018714.3:c.439T= MANE Select	NP_061184.1:p.Tyr147=