Canonical Allele Identifier: CA445467133

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1517422
• ClinVar RCV Id: RCV002041076
• dbSNP Id: rs1745297420
• gnomAD v4: 5-90684110-G-A
• MyVariant Identifiers: chr5:g.89979927G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684110G>A , CM000667.2:g.90684110G>A	GRCh38
NC_000005.9:g.89979927G>A , CM000667.1:g.89979927G>A	GRCh37
NC_000005.8:g.90015683G>A	NCBI36
NG_007083.1:g.130311G>A
NG_007083.2:g.159767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6189G>A MANE Select	ENSP00000384582.2:p.Leu2063=
ENST00000639431.1:c.265+7901G>A	ENSP00000491057.1:n.265+7901G>A
ENST00000639473.1:n.1648G>A
ENST00000640012.1:c.165-1670G>A
ENST00000640403.1:c.3480G>A	ENSP00000492531.1:p.Leu1160=
ENST00000640779.1:c.1001G>A
ENST00000405460.6:c.6189G>A	ENSP00000384582.2:p.Leu2063=
NM_032119.3:c.6189G>A	NP_115495.3:p.Leu2063=
NR_003149.1:n.6285G>A
XM_011543675.1:c.6186G>A	XP_011541977.1:p.Leu2062=
XM_011543676.1:c.6108G>A	XP_011541978.1:p.Leu2036=
XM_011543677.1:c.3492G>A	XP_011541979.1:p.Leu1164=
XM_011543678.1:c.6189G>A	XP_011541980.1:p.Leu2063=
XM_011543679.1:c.6189G>A	XP_011541981.1:p.Leu2063=
NM_032119.4:c.6189G>A MANE Select	NP_115495.3:p.Leu2063=
XM_017009963.2:c.6189G>A	XP_016865452.1:p.Leu2063=
XM_017009964.2:c.6186G>A	XP_016865453.1:p.Leu2062=
XM_017009965.1:c.6186G>A	XP_016865454.1:p.Leu2062=
XM_017009966.2:c.6108G>A	XP_016865455.1:p.Leu2036=
XM_017009967.1:c.6093G>A	XP_016865456.1:p.Leu2031=
XM_017009968.2:c.6189G>A	XP_016865457.1:p.Leu2063=
XM_017009969.2:c.6189G>A	XP_016865458.1:p.Leu2063=
XM_017009970.2:c.6189G>A	XP_016865459.1:p.Leu2063=
XM_017009971.2:c.6189G>A	XP_016865460.1:p.Leu2063=
XM_017009973.1:c.-611G>A	XP_016865462.1:n.-611G>A
XM_017009974.2:c.6189G>A	XP_016865463.1:p.Leu2063=
NR_003149.2:n.6288G>A