Canonical Allele Identifier: CA360366817

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1207388118
• gnomAD v2: 5-90050904-A-G
• gnomAD v4: 5-90755087-A-G
• MyVariant Identifiers: chr5:g.90050904A>G (hg19) ; chr5:g.90755087A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755087A>G , CM000667.2:g.90755087A>G	GRCh38
NC_000005.9:g.90050904A>G , CM000667.1:g.90050904A>G	GRCh37
NC_000005.8:g.90086660A>G	NCBI36
NG_007083.1:g.201288A>G
NG_007083.2:g.230744A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11482A>G MANE Select	ENSP00000384582.2:p.Asn3828Asp
ENST00000425867.3:c.613A>G	ENSP00000392618.3:p.Asn205Asp
ENST00000639431.1:c.265+78878A>G	ENSP00000491057.1:n.265+78878A>G
ENST00000640374.1:n.4626A>G
ENST00000640464.1:n.1901A>G
ENST00000405460.6:c.11482A>G	ENSP00000384582.2:p.Asn3828Asp
ENST00000509621.1:c.4179A>G
NM_032119.3:c.11482A>G	NP_115495.3:p.Asn3828Asp
NR_003149.1:n.11495A>G
XM_011543675.1:c.11479A>G	XP_011541977.1:p.Asn3827Asp
XM_011543676.1:c.11401A>G	XP_011541978.1:p.Asn3801Asp
XM_011543677.1:c.8785A>G	XP_011541979.1:p.Asn2929Asp
XM_011543678.1:c.11482A>G	XP_011541980.1:p.Asn3828Asp
NM_032119.4:c.11482A>G MANE Select	NP_115495.3:p.Asn3828Asp
XM_017009963.2:c.11503A>G	XP_016865452.1:p.Asn3835Asp
XM_017009964.2:c.11500A>G	XP_016865453.1:p.Asn3834Asp
XM_017009965.1:c.11500A>G	XP_016865454.1:p.Asn3834Asp
XM_017009966.2:c.11422A>G	XP_016865455.1:p.Asn3808Asp
XM_017009967.1:c.11407A>G	XP_016865456.1:p.Asn3803Asp
XM_017009968.2:c.11503A>G	XP_016865457.1:p.Asn3835Asp
XM_017009969.2:c.11503A>G	XP_016865458.1:p.Asn3835Asp
XM_017009970.2:c.11503A>G	XP_016865459.1:p.Asn3835Asp
XM_017009971.2:c.11503A>G	XP_016865460.1:p.Asn3835Asp
XM_017009972.1:c.4621A>G	XP_016865461.1:p.Asn1541Asp
XM_017009973.1:c.4600A>G	XP_016865462.1:p.Asn1534Asp
NR_003149.2:n.11498A>G