Canonical Allele Identifier: CA3341162

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 504943
• ClinVar RCV Id: RCV000610046 ; RCV000905883
• dbSNP Id: rs576743510
• ExAC: 5:90059149 G / A
• gnomAD v2: 5-90059149-G-A
• gnomAD v3: 5-90763332-G-A
• gnomAD v4: 5-90763332-G-A
• MyVariant Identifiers: chr5:g.90059149G>A (hg19) ; chr5:g.90763332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763332G>A , CM000667.2:g.90763332G>A	GRCh38
NC_000005.9:g.90059149G>A , CM000667.1:g.90059149G>A	GRCh37
NC_000005.8:g.90094905G>A	NCBI36
NG_007083.1:g.209533G>A
NG_007083.2:g.238989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12148G>A MANE Select	ENSP00000384582.2:p.Asp4050Asn
ENST00000425867.3:c.1102G>A	ENSP00000392618.3:p.Asp368Asn
ENST00000639431.1:c.265+87123G>A	ENSP00000491057.1:n.265+87123G>A
ENST00000640464.1:n.2567G>A
ENST00000640729.1:n.725G>A
ENST00000405460.6:c.12148G>A	ENSP00000384582.2:p.Asp4050Asn
NM_032119.3:c.12148G>A	NP_115495.3:p.Asp4050Asn
NR_003149.1:n.12161G>A
XM_011543675.1:c.12145G>A	XP_011541977.1:p.Asp4049Asn
XM_011543676.1:c.12067G>A	XP_011541978.1:p.Asp4023Asn
XM_011543677.1:c.9451G>A	XP_011541979.1:p.Asp3151Asn
XM_011543678.1:c.12148G>A	XP_011541980.1:p.Asp4050Asn
NM_032119.4:c.12148G>A MANE Select	NP_115495.3:p.Asp4050Asn
XM_017009963.2:c.12169G>A	XP_016865452.1:p.Asp4057Asn
XM_017009964.2:c.12166G>A	XP_016865453.1:p.Asp4056Asn
XM_017009965.1:c.12166G>A	XP_016865454.1:p.Asp4056Asn
XM_017009966.2:c.12088G>A	XP_016865455.1:p.Asp4030Asn
XM_017009967.1:c.12073G>A	XP_016865456.1:p.Asp4025Asn
XM_017009968.2:c.12169G>A	XP_016865457.1:p.Asp4057Asn
XM_017009969.2:c.12169G>A	XP_016865458.1:p.Asp4057Asn
XM_017009970.2:c.12169G>A	XP_016865459.1:p.Asp4057Asn
XM_017009971.2:c.12169G>A	XP_016865460.1:p.Asp4057Asn
XM_017009972.1:c.5287G>A	XP_016865461.1:p.Asp1763Asn
XM_017009973.1:c.5266G>A	XP_016865462.1:p.Asp1756Asn
NR_003149.2:n.12164G>A