Canonical Allele Identifier: CA184561

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 179508
• ClinVar RCV Id: RCV000156298 ; RCV001059912
• dbSNP Id: rs727504913
• ExAC: 5:90149936 G / A
• gnomAD v2: 5-90149936-G-A
• gnomAD v3: 5-90854119-G-A
• gnomAD v4: 5-90854119-G-A
• MyVariant Identifiers: chr5:g.90149936G>A (hg19) ; chr5:g.90854119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90854119G>A , CM000667.2:g.90854119G>A	GRCh38
NC_000005.9:g.90149936G>A , CM000667.1:g.90149936G>A	GRCh37
NC_000005.8:g.90185692G>A	NCBI36
NG_007083.1:g.300320G>A
NG_007083.2:g.329776G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.17512G>A MANE Select	ENSP00000384582.2:p.Val5838Ile
ENST00000425867.3:c.6466G>A	ENSP00000392618.3:p.Val2156Ile
ENST00000638510.1:n.4779G>A
ENST00000638990.1:c.724G>A
ENST00000639431.1:c.266-131225G>A	ENSP00000491057.1:n.266-131225G>A
ENST00000640407.1:c.3961G>A	ENSP00000491425.1:n.3961G>A
ENST00000405460.6:c.17512G>A	ENSP00000384582.2:p.Val5838Ile
ENST00000425867.2:c.4495G>A	ENSP00000392618.2:p.Val1499Ile
ENST00000503852.1:n.60G>A
NM_032119.3:c.17512G>A	NP_115495.3:p.Val5838Ile
NR_003149.1:n.17525G>A
XM_011543675.1:c.17509G>A	XP_011541977.1:p.Val5837Ile
XM_011543676.1:c.17431G>A	XP_011541978.1:p.Val5811Ile
XM_011543677.1:c.14815G>A	XP_011541979.1:p.Val4939Ile
NM_032119.4:c.17512G>A MANE Select	NP_115495.3:p.Val5838Ile
XM_017009963.2:c.17533G>A	XP_016865452.1:p.Val5845Ile
XM_017009964.2:c.17530G>A	XP_016865453.1:p.Val5844Ile
XM_017009965.1:c.17530G>A	XP_016865454.1:p.Val5844Ile
XM_017009966.2:c.17452G>A	XP_016865455.1:p.Val5818Ile
XM_017009967.1:c.17437G>A	XP_016865456.1:p.Val5813Ile
XM_017009968.2:c.17353G>A	XP_016865457.1:p.Val5785Ile
XM_017009969.2:c.17533G>A	XP_016865458.1:p.Val5845Ile
XM_017009972.1:c.10651G>A	XP_016865461.1:p.Val3551Ile
XM_017009973.1:c.10630G>A	XP_016865462.1:p.Val3544Ile
NR_003149.2:n.17528G>A