Canonical Allele Identifier: CA3341318

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90778448G>A , CM000667.2:g.90778448G>A	GRCh38
NC_000005.9:g.90074265G>A , CM000667.1:g.90074265G>A	GRCh37
NC_000005.8:g.90110021G>A	NCBI36
NG_007083.1:g.224649G>A
NG_007083.2:g.254105G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12688G>A MANE Select	NP_115495.3:p.Glu4230Lys
ENST00000405460.9:c.12688G>A MANE Select	ENSP00000384582.2:p.Glu4230Lys
NM_032119.3:c.12688G>A	NP_115495.3:p.Glu4230Lys
NR_003149.1:n.12701G>A
NR_003149.2:n.12704G>A
ENST00000405460.6:c.12688G>A	ENSP00000384582.2:p.Glu4230Lys
ENST00000425867.3:c.1642G>A	ENSP00000392618.3:p.Glu548Lys
ENST00000639431.1:c.265+102239G>A	ENSP00000491057.1:n.265+102239G>A
ENST00000640464.1:n.3107G>A
ENST00000640729.1:n.1265G>A
XM_011543675.1:c.12685G>A	XP_011541977.1:p.Glu4229Lys
XM_011543676.1:c.12607G>A	XP_011541978.1:p.Glu4203Lys
XM_011543677.1:c.9991G>A	XP_011541979.1:p.Glu3331Lys
XM_011543678.1:c.12688G>A	XP_011541980.1:p.Glu4230Lys
XM_017009963.2:c.12709G>A	XP_016865452.1:p.Glu4237Lys
XM_017009964.2:c.12706G>A	XP_016865453.1:p.Glu4236Lys
XM_017009965.1:c.12706G>A	XP_016865454.1:p.Glu4236Lys
XM_017009966.2:c.12628G>A	XP_016865455.1:p.Glu4210Lys
XM_017009967.1:c.12613G>A	XP_016865456.1:p.Glu4205Lys
XM_017009968.2:c.12709G>A	XP_016865457.1:p.Glu4237Lys
XM_017009969.2:c.12709G>A	XP_016865458.1:p.Glu4237Lys
XM_017009970.2:c.12709G>A	XP_016865459.1:p.Glu4237Lys
XM_017009971.2:c.12709G>A	XP_016865460.1:p.Glu4237Lys
XM_017009972.1:c.5827G>A	XP_016865461.1:p.Glu1943Lys
XM_017009973.1:c.5806G>A	XP_016865462.1:p.Glu1936Lys