Canonical Allele Identifier: CA138167

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46348
• ClinVar RCV Id: RCV000039604 ; RCV000146082 ; RCV000442158 ; RCV000987536
• dbSNP Id: rs41308846
• ExAC: 5:89979871 G / A
• gnomAD v2: 5-89979871-G-A
• gnomAD v3: 5-90684054-G-A
• gnomAD v4: 5-90684054-G-A
• MyVariant Identifiers: chr5:g.89979871G>A (hg19) ; chr5:g.90684054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684054G>A , CM000667.2:g.90684054G>A	GRCh38
NC_000005.9:g.89979871G>A , CM000667.1:g.89979871G>A	GRCh37
NC_000005.8:g.90015627G>A	NCBI36
NG_007083.1:g.130255G>A
NG_007083.2:g.159711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6133G>A MANE Select	ENSP00000384582.2:p.Gly2045Arg
ENST00000639431.1:c.265+7845G>A	ENSP00000491057.1:n.265+7845G>A
ENST00000639473.1:n.1592G>A
ENST00000640012.1:c.165-1726G>A
ENST00000640403.1:c.3424G>A	ENSP00000492531.1:p.Gly1142Arg
ENST00000640779.1:c.945G>A
ENST00000405460.6:c.6133G>A	ENSP00000384582.2:p.Gly2045Arg
NM_032119.3:c.6133G>A	NP_115495.3:p.Gly2045Arg
NR_003149.1:n.6229G>A
XM_011543675.1:c.6130G>A	XP_011541977.1:p.Gly2044Arg
XM_011543676.1:c.6052G>A	XP_011541978.1:p.Gly2018Arg
XM_011543677.1:c.3436G>A	XP_011541979.1:p.Gly1146Arg
XM_011543678.1:c.6133G>A	XP_011541980.1:p.Gly2045Arg
XM_011543679.1:c.6133G>A	XP_011541981.1:p.Gly2045Arg
NM_032119.4:c.6133G>A MANE Select	NP_115495.3:p.Gly2045Arg
XM_017009963.2:c.6133G>A	XP_016865452.1:p.Gly2045Arg
XM_017009964.2:c.6130G>A	XP_016865453.1:p.Gly2044Arg
XM_017009965.1:c.6130G>A	XP_016865454.1:p.Gly2044Arg
XM_017009966.2:c.6052G>A	XP_016865455.1:p.Gly2018Arg
XM_017009967.1:c.6037G>A	XP_016865456.1:p.Gly2013Arg
XM_017009968.2:c.6133G>A	XP_016865457.1:p.Gly2045Arg
XM_017009969.2:c.6133G>A	XP_016865458.1:p.Gly2045Arg
XM_017009970.2:c.6133G>A	XP_016865459.1:p.Gly2045Arg
XM_017009971.2:c.6133G>A	XP_016865460.1:p.Gly2045Arg
XM_017009973.1:c.-667G>A	XP_016865462.1:n.-667G>A
XM_017009974.2:c.6133G>A	XP_016865463.1:p.Gly2045Arg
NR_003149.2:n.6232G>A