Canonical Allele Identifier: CA360396139

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1474483
• ClinVar RCV Id: RCV001973412
• dbSNP Id: rs2149722221
• gnomAD v4: 5-90712299-G-A
• MyVariant Identifiers: chr5:g.90008116G>A (hg19) ; chr5:g.90712299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712299G>A , CM000667.2:g.90712299G>A	GRCh38
NC_000005.9:g.90008116G>A , CM000667.1:g.90008116G>A	GRCh37
NC_000005.8:g.90043872G>A	NCBI36
NG_007083.1:g.158500G>A
NG_007083.2:g.187956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9055G>A MANE Select	ENSP00000384582.2:p.Ala3019Thr
ENST00000639431.1:c.265+36090G>A	ENSP00000491057.1:n.265+36090G>A
ENST00000639473.1:n.4514G>A
ENST00000640012.1:c.2862G>A
ENST00000640374.1:n.2199G>A
ENST00000640779.1:c.3784G>A
ENST00000405460.6:c.9055G>A	ENSP00000384582.2:p.Ala3019Thr
ENST00000509621.1:c.1752G>A
NM_032119.3:c.9055G>A	NP_115495.3:p.Ala3019Thr
NR_003149.1:n.9068G>A
XM_011543675.1:c.9052G>A	XP_011541977.1:p.Ala3018Thr
XM_011543676.1:c.8974G>A	XP_011541978.1:p.Ala2992Thr
XM_011543677.1:c.6358G>A	XP_011541979.1:p.Ala2120Thr
XM_011543678.1:c.9055G>A	XP_011541980.1:p.Ala3019Thr
XM_011543679.1:c.9055G>A	XP_011541981.1:p.Ala3019Thr
NM_032119.4:c.9055G>A MANE Select	NP_115495.3:p.Ala3019Thr
XM_017009963.2:c.9076G>A	XP_016865452.1:p.Ala3026Thr
XM_017009964.2:c.9073G>A	XP_016865453.1:p.Ala3025Thr
XM_017009965.1:c.9073G>A	XP_016865454.1:p.Ala3025Thr
XM_017009966.2:c.8995G>A	XP_016865455.1:p.Ala2999Thr
XM_017009967.1:c.8980G>A	XP_016865456.1:p.Ala2994Thr
XM_017009968.2:c.9076G>A	XP_016865457.1:p.Ala3026Thr
XM_017009969.2:c.9076G>A	XP_016865458.1:p.Ala3026Thr
XM_017009970.2:c.9076G>A	XP_016865459.1:p.Ala3026Thr
XM_017009971.2:c.9076G>A	XP_016865460.1:p.Ala3026Thr
XM_017009972.1:c.2194G>A	XP_016865461.1:p.Ala732Thr
XM_017009973.1:c.2173G>A	XP_016865462.1:p.Ala725Thr
XM_017009974.2:c.9076G>A	XP_016865463.1:p.Ala3026Thr
NR_003149.2:n.9071G>A