Canonical Allele Identifier: CA400882906

Gene: COG1

Linked Data

• MyVariant Identifiers: chr17:g.71192683C>T (hg19) ; chr17:g.73196544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196544C>T , CM000679.2:g.73196544C>T	GRCh38
NC_000017.10:g.71192683C>T , CM000679.1:g.71192683C>T	GRCh37
NC_000017.9:g.68704278C>T	NCBI36
NG_008971.1:g.8511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.353C>T MANE Select	ENSP00000299886.4:p.Ala118Val
ENST00000299886.8:c.353C>T	ENSP00000299886.4:p.Ala118Val
ENST00000438720.7:c.351C>T
ENST00000582587.2:c.350C>T
ENST00000618996.4:c.353C>T	ENSP00000479450.1:p.Ala118Val
NM_018714.2:c.353C>T	NP_061184.1:p.Ala118Val
NM_018714.3:c.353C>T MANE Select	NP_061184.1:p.Ala118Val