Canonical Allele Identifier: CA502026764

Gene: COG1

Linked Data

• gnomAD v4: 17-73193291-G-T
• MyVariant Identifiers: chr17:g.71189430G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73193291G>T , CM000679.2:g.73193291G>T	GRCh38
NC_000017.10:g.71189430G>T , CM000679.1:g.71189430G>T	GRCh37
NC_000017.9:g.68701025G>T	NCBI36
NG_008971.1:g.5258G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299886.9:c.222G>T MANE Select	ENSP00000299886.4:p.Val74=
ENST00000299886.8:c.222G>T	ENSP00000299886.4:p.Val74=
ENST00000438720.7:c.220G>T
ENST00000582587.2:c.199G>T
ENST00000618996.4:c.222G>T	ENSP00000479450.1:p.Val74=
NM_018714.2:c.222G>T	NP_061184.1:p.Val74=
NM_018714.3:c.222G>T MANE Select	NP_061184.1:p.Val74=