Canonical Allele Identifier: CA3340838

Gene: ADGRV1

Linked Data

• dbSNP Id: rs769756389
• ExAC: 5:90041480 T / G
• gnomAD v2: 5-90041480-T-G
• gnomAD v4: 5-90745663-T-G
• MyVariant Identifiers: chr5:g.90041480T>G (hg19) ; chr5:g.90745663T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745663T>G , CM000667.2:g.90745663T>G	GRCh38
NC_000005.9:g.90041480T>G , CM000667.1:g.90041480T>G	GRCh37
NC_000005.8:g.90077236T>G	NCBI36
NG_007083.1:g.191864T>G
NG_007083.2:g.221320T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10842T>G MANE Select	ENSP00000384582.2:p.Val3614=
ENST00000639431.1:c.265+69454T>G	ENSP00000491057.1:n.265+69454T>G
ENST00000640374.1:n.3986T>G
ENST00000640464.1:n.1261T>G
ENST00000405460.6:c.10842T>G	ENSP00000384582.2:p.Val3614=
ENST00000509621.1:c.3539T>G
NM_032119.3:c.10842T>G	NP_115495.3:p.Val3614=
NR_003149.1:n.10855T>G
XM_011543675.1:c.10839T>G	XP_011541977.1:p.Val3613=
XM_011543676.1:c.10761T>G	XP_011541978.1:p.Val3587=
XM_011543677.1:c.8145T>G	XP_011541979.1:p.Val2715=
XM_011543678.1:c.10842T>G	XP_011541980.1:p.Val3614=
XM_011543679.1:c.*64T>G	XP_011541981.1:n.*64T>G
NM_032119.4:c.10842T>G MANE Select	NP_115495.3:p.Val3614=
XM_017009963.2:c.10863T>G	XP_016865452.1:p.Val3621=
XM_017009964.2:c.10860T>G	XP_016865453.1:p.Val3620=
XM_017009965.1:c.10860T>G	XP_016865454.1:p.Val3620=
XM_017009966.2:c.10782T>G	XP_016865455.1:p.Val3594=
XM_017009967.1:c.10767T>G	XP_016865456.1:p.Val3589=
XM_017009968.2:c.10863T>G	XP_016865457.1:p.Val3621=
XM_017009969.2:c.10863T>G	XP_016865458.1:p.Val3621=
XM_017009970.2:c.10863T>G	XP_016865459.1:p.Val3621=
XM_017009971.2:c.10863T>G	XP_016865460.1:p.Val3621=
XM_017009972.1:c.3981T>G	XP_016865461.1:p.Val1327=
XM_017009973.1:c.3960T>G	XP_016865462.1:p.Val1320=
XM_017009974.2:c.*64T>G	XP_016865463.1:n.*64T>G
NR_003149.2:n.10858T>G