Canonical Allele Identifier: CA3342157

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 228714
• ClinVar RCV Id: RCV000222063 ; RCV001152165 ; RCV002517553
• dbSNP Id: rs772117132
• ExAC: 5:90124831 G / A
• gnomAD v2: 5-90124831-G-A
• gnomAD v3: 5-90829014-G-A
• gnomAD v4: 5-90829014-G-A
• MyVariant Identifiers: chr5:g.90124831G>A (hg19) ; chr5:g.90829014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90829014G>A , CM000667.2:g.90829014G>A	GRCh38
NC_000005.9:g.90124831G>A , CM000667.1:g.90124831G>A	GRCh37
NC_000005.8:g.90160587G>A	NCBI36
NG_007083.1:g.275215G>A
NG_007083.2:g.304671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16439G>A MANE Select	ENSP00000384582.2:p.Ser5480Asn
ENST00000425867.3:c.5393G>A	ENSP00000392618.3:p.Ser1798Asn
ENST00000638510.1:n.3706G>A
ENST00000639431.1:c.265+152805G>A	ENSP00000491057.1:n.265+152805G>A
ENST00000640061.1:n.128+6832G>A
ENST00000640407.1:c.2888G>A	ENSP00000491425.1:n.2888G>A
ENST00000405460.6:c.16439G>A	ENSP00000384582.2:p.Ser5480Asn
ENST00000425867.2:c.3422G>A	ENSP00000392618.2:p.Ser1141Asn
NM_032119.3:c.16439G>A	NP_115495.3:p.Ser5480Asn
NR_003149.1:n.16452G>A
XM_011543675.1:c.16436G>A	XP_011541977.1:p.Ser5479Asn
XM_011543676.1:c.16358G>A	XP_011541978.1:p.Ser5453Asn
XM_011543677.1:c.13742G>A	XP_011541979.1:p.Ser4581Asn
NM_032119.4:c.16439G>A MANE Select	NP_115495.3:p.Ser5480Asn
XM_017009963.2:c.16460G>A	XP_016865452.1:p.Ser5487Asn
XM_017009964.2:c.16457G>A	XP_016865453.1:p.Ser5486Asn
XM_017009965.1:c.16457G>A	XP_016865454.1:p.Ser5486Asn
XM_017009966.2:c.16379G>A	XP_016865455.1:p.Ser5460Asn
XM_017009967.1:c.16364G>A	XP_016865456.1:p.Ser5455Asn
XM_017009968.2:c.16280G>A	XP_016865457.1:p.Ser5427Asn
XM_017009969.2:c.16460G>A	XP_016865458.1:p.Ser5487Asn
XM_017009972.1:c.9578G>A	XP_016865461.1:p.Ser3193Asn
XM_017009973.1:c.9557G>A	XP_016865462.1:p.Ser3186Asn
NR_003149.2:n.16455G>A