Canonical Allele Identifier: CA502026761

Gene: COG1

Linked Data

• gnomAD v4: 17-73193288-C-T
• MyVariant Identifiers: chr17:g.71189427C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73193288C>T , CM000679.2:g.73193288C>T	GRCh38
NC_000017.10:g.71189427C>T , CM000679.1:g.71189427C>T	GRCh37
NC_000017.9:g.68701022C>T	NCBI36
NG_008971.1:g.5255C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299886.9:c.219C>T MANE Select	ENSP00000299886.4:p.Ala73=
ENST00000299886.8:c.219C>T	ENSP00000299886.4:p.Ala73=
ENST00000438720.7:c.217C>T
ENST00000582587.2:c.196C>T
ENST00000618996.4:c.219C>T	ENSP00000479450.1:p.Ala73=
NM_018714.2:c.219C>T	NP_061184.1:p.Ala73=
NM_018714.3:c.219C>T MANE Select	NP_061184.1:p.Ala73=