Canonical Allele Identifier: CA182189

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 178365
• ClinVar RCV Id: RCV000155111 ; RCV000585241 ; RCV001153109 ; RCV004551343
• dbSNP Id: rs201386977
• ExAC: 5:90055259 G / A
• gnomAD v2: 5-90055259-G-A
• gnomAD v3: 5-90759442-G-A
• gnomAD v4: 5-90759442-G-A
• MyVariant Identifiers: chr5:g.90055259G>A (hg19) ; chr5:g.90759442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90759442G>A , CM000667.2:g.90759442G>A	GRCh38
NC_000005.9:g.90055259G>A , CM000667.1:g.90055259G>A	GRCh37
NC_000005.8:g.90091015G>A	NCBI36
NG_007083.1:g.205643G>A
NG_007083.2:g.235099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11974G>A MANE Select	ENSP00000384582.2:p.Asp3992Asn
ENST00000425867.3:c.928G>A	ENSP00000392618.3:p.Asp310Asn
ENST00000639431.1:c.265+83233G>A	ENSP00000491057.1:n.265+83233G>A
ENST00000639884.1:n.628G>A
ENST00000640374.1:n.4941G>A
ENST00000640464.1:n.2393G>A
ENST00000405460.6:c.11974G>A	ENSP00000384582.2:p.Asp3992Asn
ENST00000509621.1:c.4671G>A
NM_032119.3:c.11974G>A	NP_115495.3:p.Asp3992Asn
NR_003149.1:n.11987G>A
XM_011543675.1:c.11971G>A	XP_011541977.1:p.Asp3991Asn
XM_011543676.1:c.11893G>A	XP_011541978.1:p.Asp3965Asn
XM_011543677.1:c.9277G>A	XP_011541979.1:p.Asp3093Asn
XM_011543678.1:c.11974G>A	XP_011541980.1:p.Asp3992Asn
NM_032119.4:c.11974G>A MANE Select	NP_115495.3:p.Asp3992Asn
XM_017009963.2:c.11995G>A	XP_016865452.1:p.Asp3999Asn
XM_017009964.2:c.11992G>A	XP_016865453.1:p.Asp3998Asn
XM_017009965.1:c.11992G>A	XP_016865454.1:p.Asp3998Asn
XM_017009966.2:c.11914G>A	XP_016865455.1:p.Asp3972Asn
XM_017009967.1:c.11899G>A	XP_016865456.1:p.Asp3967Asn
XM_017009968.2:c.11995G>A	XP_016865457.1:p.Asp3999Asn
XM_017009969.2:c.11995G>A	XP_016865458.1:p.Asp3999Asn
XM_017009970.2:c.11995G>A	XP_016865459.1:p.Asp3999Asn
XM_017009971.2:c.11995G>A	XP_016865460.1:p.Asp3999Asn
XM_017009972.1:c.5113G>A	XP_016865461.1:p.Asp1705Asn
XM_017009973.1:c.5092G>A	XP_016865462.1:p.Asp1698Asn
NR_003149.2:n.11990G>A