Canonical Allele Identifier: CA360377119

Gene: ADGRV1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90694163G>A , CM000667.2:g.90694163G>A	GRCh38
NC_000005.9:g.89989980G>A , CM000667.1:g.89989980G>A	GRCh37
NC_000005.8:g.90025736G>A	NCBI36
NG_007083.1:g.140364G>A
NG_007083.2:g.169820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7407G>A MANE Select	ENSP00000384582.2:p.Trp2469Ter
ENST00000639431.1:c.265+17954G>A	ENSP00000491057.1:n.265+17954G>A
ENST00000639473.1:n.2866G>A
ENST00000640012.1:c.1214G>A
ENST00000640374.1:n.551G>A
ENST00000640403.1:c.4698G>A	ENSP00000492531.1:p.Trp1566Ter
ENST00000640779.1:c.2136G>A
ENST00000405460.6:c.7407G>A	ENSP00000384582.2:p.Trp2469Ter
ENST00000509621.1:c.104G>A
NM_032119.3:c.7407G>A	NP_115495.3:p.Trp2469Ter
NR_003149.1:n.7420G>A
XM_011543675.1:c.7404G>A	XP_011541977.1:p.Trp2468Ter
XM_011543676.1:c.7326G>A	XP_011541978.1:p.Trp2442Ter
XM_011543677.1:c.4710G>A	XP_011541979.1:p.Trp1570Ter
XM_011543678.1:c.7407G>A	XP_011541980.1:p.Trp2469Ter
XM_011543679.1:c.7407G>A	XP_011541981.1:p.Trp2469Ter
NM_032119.4:c.7407G>A MANE Select	NP_115495.3:p.Trp2469Ter
XM_017009963.2:c.7407G>A	XP_016865452.1:p.Trp2469Ter
XM_017009964.2:c.7404G>A	XP_016865453.1:p.Trp2468Ter
XM_017009965.1:c.7404G>A	XP_016865454.1:p.Trp2468Ter
XM_017009966.2:c.7326G>A	XP_016865455.1:p.Trp2442Ter
XM_017009967.1:c.7311G>A	XP_016865456.1:p.Trp2437Ter
XM_017009968.2:c.7407G>A	XP_016865457.1:p.Trp2469Ter
XM_017009969.2:c.7407G>A	XP_016865458.1:p.Trp2469Ter
XM_017009970.2:c.7407G>A	XP_016865459.1:p.Trp2469Ter
XM_017009971.2:c.7407G>A	XP_016865460.1:p.Trp2469Ter
XM_017009972.1:c.525G>A	XP_016865461.1:p.Trp175Ter
XM_017009973.1:c.525G>A	XP_016865462.1:p.Trp175Ter
XM_017009974.2:c.7407G>A	XP_016865463.1:p.Trp2469Ter
NR_003149.2:n.7423G>A