Canonical Allele Identifier: CA3340792

Gene: ADGRV1

Linked Data

• dbSNP Id: rs756656097
• ExAC: 5:90040895 G / A
• gnomAD v2: 5-90040895-G-A
• gnomAD v3: 5-90745078-G-A
• gnomAD v4: 5-90745078-G-A
• COSMIC: COSM4640672
• MyVariant Identifiers: chr5:g.90040895G>A (hg19) ; chr5:g.90745078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745078G>A , CM000667.2:g.90745078G>A	GRCh38
NC_000005.9:g.90040895G>A , CM000667.1:g.90040895G>A	GRCh37
NC_000005.8:g.90076651G>A	NCBI36
NG_007083.1:g.191279G>A
NG_007083.2:g.220735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10582G>A MANE Select	ENSP00000384582.2:p.Ala3528Thr
ENST00000639431.1:c.265+68869G>A	ENSP00000491057.1:n.265+68869G>A
ENST00000640374.1:n.3726G>A
ENST00000640464.1:n.1001G>A
ENST00000405460.6:c.10582G>A	ENSP00000384582.2:p.Ala3528Thr
ENST00000509621.1:c.3279G>A
NM_032119.3:c.10582G>A	NP_115495.3:p.Ala3528Thr
NR_003149.1:n.10595G>A
XM_011543675.1:c.10579G>A	XP_011541977.1:p.Ala3527Thr
XM_011543676.1:c.10501G>A	XP_011541978.1:p.Ala3501Thr
XM_011543677.1:c.7885G>A	XP_011541979.1:p.Ala2629Thr
XM_011543678.1:c.10582G>A	XP_011541980.1:p.Ala3528Thr
XM_011543679.1:c.10582G>A	XP_011541981.1:p.Ala3528Thr
NM_032119.4:c.10582G>A MANE Select	NP_115495.3:p.Ala3528Thr
XM_017009963.2:c.10603G>A	XP_016865452.1:p.Ala3535Thr
XM_017009964.2:c.10600G>A	XP_016865453.1:p.Ala3534Thr
XM_017009965.1:c.10600G>A	XP_016865454.1:p.Ala3534Thr
XM_017009966.2:c.10522G>A	XP_016865455.1:p.Ala3508Thr
XM_017009967.1:c.10507G>A	XP_016865456.1:p.Ala3503Thr
XM_017009968.2:c.10603G>A	XP_016865457.1:p.Ala3535Thr
XM_017009969.2:c.10603G>A	XP_016865458.1:p.Ala3535Thr
XM_017009970.2:c.10603G>A	XP_016865459.1:p.Ala3535Thr
XM_017009971.2:c.10603G>A	XP_016865460.1:p.Ala3535Thr
XM_017009972.1:c.3721G>A	XP_016865461.1:p.Ala1241Thr
XM_017009973.1:c.3700G>A	XP_016865462.1:p.Ala1234Thr
XM_017009974.2:c.10603G>A	XP_016865463.1:p.Ala3535Thr
NR_003149.2:n.10598G>A