Canonical Allele Identifier: CA3340726

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90728817G>A , CM000667.2:g.90728817G>A	GRCh38
NC_000005.9:g.90024634G>A , CM000667.1:g.90024634G>A	GRCh37
NC_000005.8:g.90060390G>A	NCBI36
NG_007083.1:g.175018G>A
NG_007083.2:g.204474G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.10310G>A MANE Select	NP_115495.3:p.Trp3437Ter
ENST00000405460.9:c.10310G>A MANE Select	ENSP00000384582.2:p.Trp3437Ter
NM_032119.3:c.10310G>A	NP_115495.3:p.Trp3437Ter
NR_003149.1:n.10323G>A
NR_003149.2:n.10326G>A
ENST00000405460.6:c.10310G>A	ENSP00000384582.2:p.Trp3437Ter
ENST00000509621.1:c.3007G>A
ENST00000639431.1:c.265+52608G>A	ENSP00000491057.1:n.265+52608G>A
ENST00000640374.1:n.3454G>A
ENST00000640464.1:n.729G>A
XM_011543675.1:c.10307G>A	XP_011541977.1:p.Trp3436Ter
XM_011543676.1:c.10229G>A	XP_011541978.1:p.Trp3410Ter
XM_011543677.1:c.7613G>A	XP_011541979.1:p.Trp2538Ter
XM_011543678.1:c.10310G>A	XP_011541980.1:p.Trp3437Ter
XM_011543679.1:c.10310G>A	XP_011541981.1:p.Trp3437Ter
XM_017009963.2:c.10331G>A	XP_016865452.1:p.Trp3444Ter
XM_017009964.2:c.10328G>A	XP_016865453.1:p.Trp3443Ter
XM_017009965.1:c.10328G>A	XP_016865454.1:p.Trp3443Ter
XM_017009966.2:c.10250G>A	XP_016865455.1:p.Trp3417Ter
XM_017009967.1:c.10235G>A	XP_016865456.1:p.Trp3412Ter
XM_017009968.2:c.10331G>A	XP_016865457.1:p.Trp3444Ter
XM_017009969.2:c.10331G>A	XP_016865458.1:p.Trp3444Ter
XM_017009970.2:c.10331G>A	XP_016865459.1:p.Trp3444Ter
XM_017009971.2:c.10331G>A	XP_016865460.1:p.Trp3444Ter
XM_017009972.1:c.3449G>A	XP_016865461.1:p.Trp1150Ter
XM_017009973.1:c.3428G>A	XP_016865462.1:p.Trp1143Ter
XM_017009974.2:c.10331G>A	XP_016865463.1:p.Trp3444Ter
XR_001742802.1:n.2522+12090C>T
XR_948560.1:n.271+12090C>T