Canonical Allele Identifier: CA445406794

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2785739
• ClinVar RCV Id: RCV003664547
• MyVariant Identifiers: chr5:g.90059220G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763403G>A , CM000667.2:g.90763403G>A	GRCh38
NC_000005.9:g.90059220G>A , CM000667.1:g.90059220G>A	GRCh37
NC_000005.8:g.90094976G>A	NCBI36
NG_007083.1:g.209604G>A
NG_007083.2:g.239060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12219G>A MANE Select	ENSP00000384582.2:p.Glu4073=
ENST00000425867.3:c.1173G>A	ENSP00000392618.3:p.Glu391=
ENST00000639431.1:c.265+87194G>A	ENSP00000491057.1:n.265+87194G>A
ENST00000640464.1:n.2638G>A
ENST00000640729.1:n.796G>A
ENST00000405460.6:c.12219G>A	ENSP00000384582.2:p.Glu4073=
NM_032119.3:c.12219G>A	NP_115495.3:p.Glu4073=
NR_003149.1:n.12232G>A
XM_011543675.1:c.12216G>A	XP_011541977.1:p.Glu4072=
XM_011543676.1:c.12138G>A	XP_011541978.1:p.Glu4046=
XM_011543677.1:c.9522G>A	XP_011541979.1:p.Glu3174=
XM_011543678.1:c.12219G>A	XP_011541980.1:p.Glu4073=
NM_032119.4:c.12219G>A MANE Select	NP_115495.3:p.Glu4073=
XM_017009963.2:c.12240G>A	XP_016865452.1:p.Glu4080=
XM_017009964.2:c.12237G>A	XP_016865453.1:p.Glu4079=
XM_017009965.1:c.12237G>A	XP_016865454.1:p.Glu4079=
XM_017009966.2:c.12159G>A	XP_016865455.1:p.Glu4053=
XM_017009967.1:c.12144G>A	XP_016865456.1:p.Glu4048=
XM_017009968.2:c.12240G>A	XP_016865457.1:p.Glu4080=
XM_017009969.2:c.12240G>A	XP_016865458.1:p.Glu4080=
XM_017009970.2:c.12240G>A	XP_016865459.1:p.Glu4080=
XM_017009971.2:c.12240G>A	XP_016865460.1:p.Glu4080=
XM_017009972.1:c.5358G>A	XP_016865461.1:p.Glu1786=
XM_017009973.1:c.5337G>A	XP_016865462.1:p.Glu1779=
NR_003149.2:n.12235G>A