Canonical Allele Identifier: CA360399038

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 861199
• ClinVar RCV Id: RCV001067668
• dbSNP Id: rs1759873208
• gnomAD v4: 5-90789816-G-A
• MyVariant Identifiers: chr5:g.90085633G>A (hg19) ; chr5:g.90789816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789816G>A , CM000667.2:g.90789816G>A	GRCh38
NC_000005.9:g.90085633G>A , CM000667.1:g.90085633G>A	GRCh37
NC_000005.8:g.90121389G>A	NCBI36
NG_007083.1:g.236017G>A
NG_007083.2:g.265473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.14008G>A MANE Select	ENSP00000384582.2:p.Val4670Ile
ENST00000425867.3:c.2962G>A	ENSP00000392618.3:p.Val988Ile
ENST00000638510.1:n.1275G>A
ENST00000638975.1:c.637G>A	ENSP00000492630.1:p.Val213Ile
ENST00000639431.1:c.265+113607G>A	ENSP00000491057.1:n.265+113607G>A
ENST00000640407.1:c.418G>A	ENSP00000491425.1:p.Val140Ile
ENST00000405460.6:c.14008G>A	ENSP00000384582.2:p.Val4670Ile
ENST00000425867.2:c.991G>A	ENSP00000392618.2:p.Val331Ile
NM_032119.3:c.14008G>A	NP_115495.3:p.Val4670Ile
NR_003149.1:n.14021G>A
XM_011543675.1:c.14005G>A	XP_011541977.1:p.Val4669Ile
XM_011543676.1:c.13927G>A	XP_011541978.1:p.Val4643Ile
XM_011543677.1:c.11311G>A	XP_011541979.1:p.Val3771Ile
XM_011543678.1:c.14008G>A	XP_011541980.1:p.Val4670Ile
NM_032119.4:c.14008G>A MANE Select	NP_115495.3:p.Val4670Ile
XM_017009963.2:c.14029G>A	XP_016865452.1:p.Val4677Ile
XM_017009964.2:c.14026G>A	XP_016865453.1:p.Val4676Ile
XM_017009965.1:c.14026G>A	XP_016865454.1:p.Val4676Ile
XM_017009966.2:c.13948G>A	XP_016865455.1:p.Val4650Ile
XM_017009967.1:c.13933G>A	XP_016865456.1:p.Val4645Ile
XM_017009968.2:c.14029G>A	XP_016865457.1:p.Val4677Ile
XM_017009969.2:c.14029G>A	XP_016865458.1:p.Val4677Ile
XM_017009970.2:c.14029G>A	XP_016865459.1:p.Val4677Ile
XM_017009971.2:c.14029G>A	XP_016865460.1:p.Val4677Ile
XM_017009972.1:c.7147G>A	XP_016865461.1:p.Val2383Ile
XM_017009973.1:c.7126G>A	XP_016865462.1:p.Val2376Ile
NR_003149.2:n.14024G>A