Canonical Allele Identifier: CA245640

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 197473
• ClinVar RCV Id: RCV000178509 ; RCV000724092 ; RCV004553008
• dbSNP Id: rs150549897
• ExAC: 5:90008144 A / G
• gnomAD v2: 5-90008144-A-G
• gnomAD v3: 5-90712327-A-G
• gnomAD v4: 5-90712327-A-G
• MyVariant Identifiers: chr5:g.90008144A>G (hg19) ; chr5:g.90712327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712327A>G , CM000667.2:g.90712327A>G	GRCh38
NC_000005.9:g.90008144A>G , CM000667.1:g.90008144A>G	GRCh37
NC_000005.8:g.90043900A>G	NCBI36
NG_007083.1:g.158528A>G
NG_007083.2:g.187984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9083A>G MANE Select	ENSP00000384582.2:p.Asn3028Ser
ENST00000639431.1:c.265+36118A>G	ENSP00000491057.1:n.265+36118A>G
ENST00000639473.1:n.4542A>G
ENST00000640012.1:c.2890A>G
ENST00000640374.1:n.2227A>G
ENST00000640779.1:c.3812A>G
ENST00000405460.6:c.9083A>G	ENSP00000384582.2:p.Asn3028Ser
ENST00000509621.1:c.1780A>G
NM_032119.3:c.9083A>G	NP_115495.3:p.Asn3028Ser
NR_003149.1:n.9096A>G
XM_011543675.1:c.9080A>G	XP_011541977.1:p.Asn3027Ser
XM_011543676.1:c.9002A>G	XP_011541978.1:p.Asn3001Ser
XM_011543677.1:c.6386A>G	XP_011541979.1:p.Asn2129Ser
XM_011543678.1:c.9083A>G	XP_011541980.1:p.Asn3028Ser
XM_011543679.1:c.9083A>G	XP_011541981.1:p.Asn3028Ser
NM_032119.4:c.9083A>G MANE Select	NP_115495.3:p.Asn3028Ser
XM_017009963.2:c.9104A>G	XP_016865452.1:p.Asn3035Ser
XM_017009964.2:c.9101A>G	XP_016865453.1:p.Asn3034Ser
XM_017009965.1:c.9101A>G	XP_016865454.1:p.Asn3034Ser
XM_017009966.2:c.9023A>G	XP_016865455.1:p.Asn3008Ser
XM_017009967.1:c.9008A>G	XP_016865456.1:p.Asn3003Ser
XM_017009968.2:c.9104A>G	XP_016865457.1:p.Asn3035Ser
XM_017009969.2:c.9104A>G	XP_016865458.1:p.Asn3035Ser
XM_017009970.2:c.9104A>G	XP_016865459.1:p.Asn3035Ser
XM_017009971.2:c.9104A>G	XP_016865460.1:p.Asn3035Ser
XM_017009972.1:c.2222A>G	XP_016865461.1:p.Asn741Ser
XM_017009973.1:c.2201A>G	XP_016865462.1:p.Asn734Ser
XM_017009974.2:c.9104A>G	XP_016865463.1:p.Asn3035Ser
NR_003149.2:n.9099A>G