Canonical Allele Identifier: CA387913432

Gene: COG6

Linked Data

• ClinVar Variation Id: 1039694
• ClinVar RCV Id: RCV001343216
• dbSNP Id: rs1876874289
• MyVariant Identifiers: chr13:g.40263923G>A (hg19) ; chr13:g.39689786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39689786G>A , CM000675.2:g.39689786G>A	GRCh38
NC_000013.10:g.40263923G>A , CM000675.1:g.40263923G>A	GRCh37
NC_000013.9:g.39161923G>A	NCBI36
NG_028352.1:g.39160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.1036G>A MANE Select	ENSP00000397441.2:p.Val346Ile
ENST00000356576.8:c.*873G>A	ENSP00000348983.4:n.*873G>A
ENST00000416691.5:c.1036G>A	ENSP00000403733.1:p.Val346Ile
ENST00000455146.7:c.1036G>A	ENSP00000397441.2:p.Val346Ile
ENST00000460701.1:n.284G>A
NM_001145079.1:c.1036G>A	NP_001138551.1:p.Val346Ile
NM_020751.2:c.1036G>A	NP_065802.1:p.Val346Ile
NR_026745.1:n.1201G>A
XM_011535168.1:c.1036G>A	XP_011533470.1:p.Val346Ile
XM_011535169.1:c.880G>A	XP_011533471.1:p.Val294Ile
XM_011535170.1:c.880G>A	XP_011533472.1:p.Val294Ile
NM_020751.3:c.1036G>A MANE Select	NP_065802.1:p.Val346Ile
NM_001145079.2:c.1036G>A	NP_001138551.1:p.Val346Ile