Canonical Allele Identifier: CA360396140

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90712300-C-A
• COSMIC: COSM5002928
• MyVariant Identifiers: chr5:g.90008117C>A (hg19) ; chr5:g.90712300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712300C>A , CM000667.2:g.90712300C>A	GRCh38
NC_000005.9:g.90008117C>A , CM000667.1:g.90008117C>A	GRCh37
NC_000005.8:g.90043873C>A	NCBI36
NG_007083.1:g.158501C>A
NG_007083.2:g.187957C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9056C>A MANE Select	ENSP00000384582.2:p.Ala3019Asp
ENST00000639431.1:c.265+36091C>A	ENSP00000491057.1:n.265+36091C>A
ENST00000639473.1:n.4515C>A
ENST00000640012.1:c.2863C>A
ENST00000640374.1:n.2200C>A
ENST00000640779.1:c.3785C>A
ENST00000405460.6:c.9056C>A	ENSP00000384582.2:p.Ala3019Asp
ENST00000509621.1:c.1753C>A
NM_032119.3:c.9056C>A	NP_115495.3:p.Ala3019Asp
NR_003149.1:n.9069C>A
XM_011543675.1:c.9053C>A	XP_011541977.1:p.Ala3018Asp
XM_011543676.1:c.8975C>A	XP_011541978.1:p.Ala2992Asp
XM_011543677.1:c.6359C>A	XP_011541979.1:p.Ala2120Asp
XM_011543678.1:c.9056C>A	XP_011541980.1:p.Ala3019Asp
XM_011543679.1:c.9056C>A	XP_011541981.1:p.Ala3019Asp
NM_032119.4:c.9056C>A MANE Select	NP_115495.3:p.Ala3019Asp
XM_017009963.2:c.9077C>A	XP_016865452.1:p.Ala3026Asp
XM_017009964.2:c.9074C>A	XP_016865453.1:p.Ala3025Asp
XM_017009965.1:c.9074C>A	XP_016865454.1:p.Ala3025Asp
XM_017009966.2:c.8996C>A	XP_016865455.1:p.Ala2999Asp
XM_017009967.1:c.8981C>A	XP_016865456.1:p.Ala2994Asp
XM_017009968.2:c.9077C>A	XP_016865457.1:p.Ala3026Asp
XM_017009969.2:c.9077C>A	XP_016865458.1:p.Ala3026Asp
XM_017009970.2:c.9077C>A	XP_016865459.1:p.Ala3026Asp
XM_017009971.2:c.9077C>A	XP_016865460.1:p.Ala3026Asp
XM_017009972.1:c.2195C>A	XP_016865461.1:p.Ala732Asp
XM_017009973.1:c.2174C>A	XP_016865462.1:p.Ala725Asp
XM_017009974.2:c.9077C>A	XP_016865463.1:p.Ala3026Asp
NR_003149.2:n.9072C>A