Canonical Allele Identifier: CA400879933

Gene: COG1

Linked Data

• MyVariant Identifiers: chr17:g.71189426C>T (hg19) ; chr17:g.73193287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73193287C>T , CM000679.2:g.73193287C>T	GRCh38
NC_000017.10:g.71189426C>T , CM000679.1:g.71189426C>T	GRCh37
NC_000017.9:g.68701021C>T	NCBI36
NG_008971.1:g.5254C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299886.9:c.218C>T MANE Select	ENSP00000299886.4:p.Ala73Val
ENST00000299886.8:c.218C>T	ENSP00000299886.4:p.Ala73Val
ENST00000438720.7:c.216C>T
ENST00000582587.2:c.195C>T
ENST00000618996.4:c.218C>T	ENSP00000479450.1:p.Ala73Val
NM_018714.2:c.218C>T	NP_061184.1:p.Ala73Val
NM_018714.3:c.218C>T MANE Select	NP_061184.1:p.Ala73Val