Canonical Allele Identifier: CA182191

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 178366
• ClinVar RCV Id: RCV000155112 ; RCV000514796 ; RCV001155715
• dbSNP Id: rs202190568
• ExAC: 5:90059213 G / A
• gnomAD v2: 5-90059213-G-A
• gnomAD v3: 5-90763396-G-A
• gnomAD v4: 5-90763396-G-A
• COSMIC: COSM1071165
• MyVariant Identifiers: chr5:g.90059213G>A (hg19) ; chr5:g.90763396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763396G>A , CM000667.2:g.90763396G>A	GRCh38
NC_000005.9:g.90059213G>A , CM000667.1:g.90059213G>A	GRCh37
NC_000005.8:g.90094969G>A	NCBI36
NG_007083.1:g.209597G>A
NG_007083.2:g.239053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12212G>A MANE Select	ENSP00000384582.2:p.Arg4071Gln
ENST00000425867.3:c.1166G>A	ENSP00000392618.3:p.Arg389Gln
ENST00000639431.1:c.265+87187G>A	ENSP00000491057.1:n.265+87187G>A
ENST00000640464.1:n.2631G>A
ENST00000640729.1:n.789G>A
ENST00000405460.6:c.12212G>A	ENSP00000384582.2:p.Arg4071Gln
NM_032119.3:c.12212G>A	NP_115495.3:p.Arg4071Gln
NR_003149.1:n.12225G>A
XM_011543675.1:c.12209G>A	XP_011541977.1:p.Arg4070Gln
XM_011543676.1:c.12131G>A	XP_011541978.1:p.Arg4044Gln
XM_011543677.1:c.9515G>A	XP_011541979.1:p.Arg3172Gln
XM_011543678.1:c.12212G>A	XP_011541980.1:p.Arg4071Gln
NM_032119.4:c.12212G>A MANE Select	NP_115495.3:p.Arg4071Gln
XM_017009963.2:c.12233G>A	XP_016865452.1:p.Arg4078Gln
XM_017009964.2:c.12230G>A	XP_016865453.1:p.Arg4077Gln
XM_017009965.1:c.12230G>A	XP_016865454.1:p.Arg4077Gln
XM_017009966.2:c.12152G>A	XP_016865455.1:p.Arg4051Gln
XM_017009967.1:c.12137G>A	XP_016865456.1:p.Arg4046Gln
XM_017009968.2:c.12233G>A	XP_016865457.1:p.Arg4078Gln
XM_017009969.2:c.12233G>A	XP_016865458.1:p.Arg4078Gln
XM_017009970.2:c.12233G>A	XP_016865459.1:p.Arg4078Gln
XM_017009971.2:c.12233G>A	XP_016865460.1:p.Arg4078Gln
XM_017009972.1:c.5351G>A	XP_016865461.1:p.Arg1784Gln
XM_017009973.1:c.5330G>A	XP_016865462.1:p.Arg1777Gln
NR_003149.2:n.12228G>A