Canonical Allele Identifier: CA16609561

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 402256
• ClinVar RCV Id: RCV000454263
• dbSNP Id: rs1060499795
• gnomAD v4: 5-90728933-G-A
• MyVariant Identifiers: chr5:g.90024750G>A (hg19) ; chr5:g.90728933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90728933G>A , CM000667.2:g.90728933G>A	GRCh38
NC_000005.9:g.90024750G>A , CM000667.1:g.90024750G>A	GRCh37
NC_000005.8:g.90060506G>A	NCBI36
NG_007083.1:g.175134G>A
NG_007083.2:g.204590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10426G>A MANE Select	ENSP00000384582.2:p.Gly3476Arg
ENST00000639431.1:c.265+52724G>A	ENSP00000491057.1:n.265+52724G>A
ENST00000640374.1:n.3570G>A
ENST00000640464.1:n.845G>A
ENST00000405460.6:c.10426G>A	ENSP00000384582.2:p.Gly3476Arg
ENST00000509621.1:c.3123G>A
NM_032119.3:c.10426G>A	NP_115495.3:p.Gly3476Arg
NR_003149.1:n.10439G>A
XM_011543675.1:c.10423G>A	XP_011541977.1:p.Gly3475Arg
XM_011543676.1:c.10345G>A	XP_011541978.1:p.Gly3449Arg
XM_011543677.1:c.7729G>A	XP_011541979.1:p.Gly2577Arg
XM_011543678.1:c.10426G>A	XP_011541980.1:p.Gly3476Arg
XM_011543679.1:c.10426G>A	XP_011541981.1:p.Gly3476Arg
XR_948560.1:n.271+11974C>T
NM_032119.4:c.10426G>A MANE Select	NP_115495.3:p.Gly3476Arg
XM_017009963.2:c.10447G>A	XP_016865452.1:p.Gly3483Arg
XM_017009964.2:c.10444G>A	XP_016865453.1:p.Gly3482Arg
XM_017009965.1:c.10444G>A	XP_016865454.1:p.Gly3482Arg
XM_017009966.2:c.10366G>A	XP_016865455.1:p.Gly3456Arg
XM_017009967.1:c.10351G>A	XP_016865456.1:p.Gly3451Arg
XM_017009968.2:c.10447G>A	XP_016865457.1:p.Gly3483Arg
XM_017009969.2:c.10447G>A	XP_016865458.1:p.Gly3483Arg
XM_017009970.2:c.10447G>A	XP_016865459.1:p.Gly3483Arg
XM_017009971.2:c.10447G>A	XP_016865460.1:p.Gly3483Arg
XM_017009972.1:c.3565G>A	XP_016865461.1:p.Gly1189Arg
XM_017009973.1:c.3544G>A	XP_016865462.1:p.Gly1182Arg
XM_017009974.2:c.10447G>A	XP_016865463.1:p.Gly3483Arg
XR_001742802.1:n.2522+11974C>T
NR_003149.2:n.10442G>A