Canonical Allele Identifier: CA445404251

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1154510
• ClinVar RCV Id: RCV001496514
• dbSNP Id: rs2149974361
• gnomAD v4: 5-90755182-G-A
• MyVariant Identifiers: chr5:g.90050999G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755182G>A , CM000667.2:g.90755182G>A	GRCh38
NC_000005.9:g.90050999G>A , CM000667.1:g.90050999G>A	GRCh37
NC_000005.8:g.90086755G>A	NCBI36
NG_007083.1:g.201383G>A
NG_007083.2:g.230839G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11577G>A MANE Select	ENSP00000384582.2:p.Leu3859=
ENST00000425867.3:c.708G>A	ENSP00000392618.3:p.Leu236=
ENST00000639431.1:c.265+78973G>A	ENSP00000491057.1:n.265+78973G>A
ENST00000640374.1:n.4721G>A
ENST00000640464.1:n.1996G>A
ENST00000405460.6:c.11577G>A	ENSP00000384582.2:p.Leu3859=
ENST00000509621.1:c.4274G>A
NM_032119.3:c.11577G>A	NP_115495.3:p.Leu3859=
NR_003149.1:n.11590G>A
XM_011543675.1:c.11574G>A	XP_011541977.1:p.Leu3858=
XM_011543676.1:c.11496G>A	XP_011541978.1:p.Leu3832=
XM_011543677.1:c.8880G>A	XP_011541979.1:p.Leu2960=
XM_011543678.1:c.11577G>A	XP_011541980.1:p.Leu3859=
NM_032119.4:c.11577G>A MANE Select	NP_115495.3:p.Leu3859=
XM_017009963.2:c.11598G>A	XP_016865452.1:p.Leu3866=
XM_017009964.2:c.11595G>A	XP_016865453.1:p.Leu3865=
XM_017009965.1:c.11595G>A	XP_016865454.1:p.Leu3865=
XM_017009966.2:c.11517G>A	XP_016865455.1:p.Leu3839=
XM_017009967.1:c.11502G>A	XP_016865456.1:p.Leu3834=
XM_017009968.2:c.11598G>A	XP_016865457.1:p.Leu3866=
XM_017009969.2:c.11598G>A	XP_016865458.1:p.Leu3866=
XM_017009970.2:c.11598G>A	XP_016865459.1:p.Leu3866=
XM_017009971.2:c.11598G>A	XP_016865460.1:p.Leu3866=
XM_017009972.1:c.4716G>A	XP_016865461.1:p.Leu1572=
XM_017009973.1:c.4695G>A	XP_016865462.1:p.Leu1565=
NR_003149.2:n.11593G>A