Canonical Allele Identifier: CA122804739

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1046806
• ClinVar RCV Id: RCV001351411
• dbSNP Id: rs935152608
• gnomAD v2: 5-90008117-C-T
• gnomAD v3: 5-90712300-C-T
• gnomAD v4: 5-90712300-C-T
• MyVariant Identifiers: chr5:g.90008117C>T (hg19) ; chr5:g.90712300C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9056C>T MANE Select	ENSP00000384582.2:p.Ala3019Val
ENST00000639431.1:c.265+36091C>T	ENSP00000491057.1:n.265+36091C>T
ENST00000639473.1:n.4515C>T
ENST00000640012.1:c.2863C>T
ENST00000640374.1:n.2200C>T
ENST00000640779.1:c.3785C>T
ENST00000405460.6:c.9056C>T	ENSP00000384582.2:p.Ala3019Val
ENST00000509621.1:c.1753C>T
NM_032119.3:c.9056C>T	NP_115495.3:p.Ala3019Val
NR_003149.1:n.9069C>T
XM_011543675.1:c.9053C>T	XP_011541977.1:p.Ala3018Val
XM_011543676.1:c.8975C>T	XP_011541978.1:p.Ala2992Val
XM_011543677.1:c.6359C>T	XP_011541979.1:p.Ala2120Val
XM_011543678.1:c.9056C>T	XP_011541980.1:p.Ala3019Val
XM_011543679.1:c.9056C>T	XP_011541981.1:p.Ala3019Val
NM_032119.4:c.9056C>T MANE Select	NP_115495.3:p.Ala3019Val
XM_017009963.2:c.9077C>T	XP_016865452.1:p.Ala3026Val
XM_017009964.2:c.9074C>T	XP_016865453.1:p.Ala3025Val
XM_017009965.1:c.9074C>T	XP_016865454.1:p.Ala3025Val
XM_017009966.2:c.8996C>T	XP_016865455.1:p.Ala2999Val
XM_017009967.1:c.8981C>T	XP_016865456.1:p.Ala2994Val
XM_017009968.2:c.9077C>T	XP_016865457.1:p.Ala3026Val
XM_017009969.2:c.9077C>T	XP_016865458.1:p.Ala3026Val
XM_017009970.2:c.9077C>T	XP_016865459.1:p.Ala3026Val
XM_017009971.2:c.9077C>T	XP_016865460.1:p.Ala3026Val
XM_017009972.1:c.2195C>T	XP_016865461.1:p.Ala732Val
XM_017009973.1:c.2174C>T	XP_016865462.1:p.Ala725Val
XM_017009974.2:c.9077C>T	XP_016865463.1:p.Ala3026Val
NR_003149.2:n.9072C>T