Canonical Allele Identifier: CA360377219

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1451473
• ClinVar RCV Id: RCV001993260
• dbSNP Id: rs2150014852
• gnomAD v4: 5-90763327-C-A
• MyVariant Identifiers: chr5:g.90059144C>A (hg19) ; chr5:g.90763327C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763327C>A , CM000667.2:g.90763327C>A	GRCh38
NC_000005.9:g.90059144C>A , CM000667.1:g.90059144C>A	GRCh37
NC_000005.8:g.90094900C>A	NCBI36
NG_007083.1:g.209528C>A
NG_007083.2:g.238984C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12143C>A MANE Select	ENSP00000384582.2:p.Ser4048Ter
ENST00000425867.3:c.1097C>A	ENSP00000392618.3:p.Ser366Ter
ENST00000639431.1:c.265+87118C>A	ENSP00000491057.1:n.265+87118C>A
ENST00000640464.1:n.2562C>A
ENST00000640729.1:n.720C>A
ENST00000405460.6:c.12143C>A	ENSP00000384582.2:p.Ser4048Ter
NM_032119.3:c.12143C>A	NP_115495.3:p.Ser4048Ter
NR_003149.1:n.12156C>A
XM_011543675.1:c.12140C>A	XP_011541977.1:p.Ser4047Ter
XM_011543676.1:c.12062C>A	XP_011541978.1:p.Ser4021Ter
XM_011543677.1:c.9446C>A	XP_011541979.1:p.Ser3149Ter
XM_011543678.1:c.12143C>A	XP_011541980.1:p.Ser4048Ter
NM_032119.4:c.12143C>A MANE Select	NP_115495.3:p.Ser4048Ter
XM_017009963.2:c.12164C>A	XP_016865452.1:p.Ser4055Ter
XM_017009964.2:c.12161C>A	XP_016865453.1:p.Ser4054Ter
XM_017009965.1:c.12161C>A	XP_016865454.1:p.Ser4054Ter
XM_017009966.2:c.12083C>A	XP_016865455.1:p.Ser4028Ter
XM_017009967.1:c.12068C>A	XP_016865456.1:p.Ser4023Ter
XM_017009968.2:c.12164C>A	XP_016865457.1:p.Ser4055Ter
XM_017009969.2:c.12164C>A	XP_016865458.1:p.Ser4055Ter
XM_017009970.2:c.12164C>A	XP_016865459.1:p.Ser4055Ter
XM_017009971.2:c.12164C>A	XP_016865460.1:p.Ser4055Ter
XM_017009972.1:c.5282C>A	XP_016865461.1:p.Ser1761Ter
XM_017009973.1:c.5261C>A	XP_016865462.1:p.Ser1754Ter
NR_003149.2:n.12159C>A