Canonical Allele Identifier: CA360377167

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763323-C-A
• MyVariant Identifiers: chr5:g.90059140C>A (hg19) ; chr5:g.90763323C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763323C>A , CM000667.2:g.90763323C>A	GRCh38
NC_000005.9:g.90059140C>A , CM000667.1:g.90059140C>A	GRCh37
NC_000005.8:g.90094896C>A	NCBI36
NG_007083.1:g.209524C>A
NG_007083.2:g.238980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12139C>A MANE Select	ENSP00000384582.2:p.Leu4047Ile
ENST00000425867.3:c.1093C>A	ENSP00000392618.3:p.Leu365Ile
ENST00000639431.1:c.265+87114C>A	ENSP00000491057.1:n.265+87114C>A
ENST00000640464.1:n.2558C>A
ENST00000640729.1:n.716C>A
ENST00000405460.6:c.12139C>A	ENSP00000384582.2:p.Leu4047Ile
NM_032119.3:c.12139C>A	NP_115495.3:p.Leu4047Ile
NR_003149.1:n.12152C>A
XM_011543675.1:c.12136C>A	XP_011541977.1:p.Leu4046Ile
XM_011543676.1:c.12058C>A	XP_011541978.1:p.Leu4020Ile
XM_011543677.1:c.9442C>A	XP_011541979.1:p.Leu3148Ile
XM_011543678.1:c.12139C>A	XP_011541980.1:p.Leu4047Ile
NM_032119.4:c.12139C>A MANE Select	NP_115495.3:p.Leu4047Ile
XM_017009963.2:c.12160C>A	XP_016865452.1:p.Leu4054Ile
XM_017009964.2:c.12157C>A	XP_016865453.1:p.Leu4053Ile
XM_017009965.1:c.12157C>A	XP_016865454.1:p.Leu4053Ile
XM_017009966.2:c.12079C>A	XP_016865455.1:p.Leu4027Ile
XM_017009967.1:c.12064C>A	XP_016865456.1:p.Leu4022Ile
XM_017009968.2:c.12160C>A	XP_016865457.1:p.Leu4054Ile
XM_017009969.2:c.12160C>A	XP_016865458.1:p.Leu4054Ile
XM_017009970.2:c.12160C>A	XP_016865459.1:p.Leu4054Ile
XM_017009971.2:c.12160C>A	XP_016865460.1:p.Leu4054Ile
XM_017009972.1:c.5278C>A	XP_016865461.1:p.Leu1760Ile
XM_017009973.1:c.5257C>A	XP_016865462.1:p.Leu1753Ile
NR_003149.2:n.12155C>A