Canonical Allele Identifier: CA3340143

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90696996G>A , CM000667.2:g.90696996G>A	GRCh38
NC_000005.9:g.89992813G>A , CM000667.1:g.89992813G>A	GRCh37
NC_000005.8:g.90028569G>A	NCBI36
NG_007083.1:g.143197G>A
NG_007083.2:g.172653G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.8005G>A MANE Select	NP_115495.3:p.Glu2669Lys
ENST00000405460.9:c.8005G>A MANE Select	ENSP00000384582.2:p.Glu2669Lys
NM_032119.3:c.8005G>A	NP_115495.3:p.Glu2669Lys
NR_003149.1:n.8018G>A
NR_003149.2:n.8021G>A
ENST00000405460.6:c.8005G>A	ENSP00000384582.2:p.Glu2669Lys
ENST00000509621.1:c.702G>A
ENST00000639431.1:c.265+20787G>A	ENSP00000491057.1:n.265+20787G>A
ENST00000639473.1:n.3464G>A
ENST00000640012.1:c.1812G>A
ENST00000640374.1:n.1149G>A
ENST00000640403.1:c.5296G>A	ENSP00000492531.1:p.Glu1766Lys
ENST00000640779.1:c.2734G>A
XM_011543675.1:c.8002G>A	XP_011541977.1:p.Glu2668Lys
XM_011543676.1:c.7924G>A	XP_011541978.1:p.Glu2642Lys
XM_011543677.1:c.5308G>A	XP_011541979.1:p.Glu1770Lys
XM_011543678.1:c.8005G>A	XP_011541980.1:p.Glu2669Lys
XM_011543679.1:c.8005G>A	XP_011541981.1:p.Glu2669Lys
XM_017009963.2:c.8005G>A	XP_016865452.1:p.Glu2669Lys
XM_017009964.2:c.8002G>A	XP_016865453.1:p.Glu2668Lys
XM_017009965.1:c.8002G>A	XP_016865454.1:p.Glu2668Lys
XM_017009966.2:c.7924G>A	XP_016865455.1:p.Glu2642Lys
XM_017009967.1:c.7909G>A	XP_016865456.1:p.Glu2637Lys
XM_017009968.2:c.8005G>A	XP_016865457.1:p.Glu2669Lys
XM_017009969.2:c.8005G>A	XP_016865458.1:p.Glu2669Lys
XM_017009970.2:c.8005G>A	XP_016865459.1:p.Glu2669Lys
XM_017009971.2:c.8005G>A	XP_016865460.1:p.Glu2669Lys
XM_017009972.1:c.1123G>A	XP_016865461.1:p.Glu375Lys
XM_017009973.1:c.1123G>A	XP_016865462.1:p.Glu375Lys
XM_017009974.2:c.8005G>A	XP_016865463.1:p.Glu2669Lys