Canonical Allele Identifier: CA3342447

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 283512
• ClinVar RCV Id: RCV000371450 ; RCV000765860 ; RCV002521901
• dbSNP Id: rs202110635
• ExAC: 5:90159576 C / A
• gnomAD v2: 5-90159576-C-A
• gnomAD v3: 5-90863759-C-A
• gnomAD v4: 5-90863759-C-A
• MyVariant Identifiers: chr5:g.90159576C>A (hg19) ; chr5:g.90863759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90863759C>A , CM000667.2:g.90863759C>A	GRCh38
NC_000005.9:g.90159576C>A , CM000667.1:g.90159576C>A	GRCh37
NC_000005.8:g.90195332C>A	NCBI36
NG_007083.1:g.309960C>A
NG_007083.2:g.339416C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.17758C>A MANE Select	ENSP00000384582.2:p.Leu5920Ile
ENST00000425867.3:c.6712C>A	ENSP00000392618.3:p.Leu2238Ile
ENST00000638510.1:n.5025C>A
ENST00000638990.1:c.970C>A
ENST00000639431.1:c.266-121585C>A	ENSP00000491057.1:n.266-121585C>A
ENST00000640407.1:c.4207C>A	ENSP00000491425.1:n.4207C>A
ENST00000405460.6:c.17758C>A	ENSP00000384582.2:p.Leu5920Ile
ENST00000425867.2:c.4741C>A	ENSP00000392618.2:p.Leu1581Ile
ENST00000503852.1:n.306C>A
NM_032119.3:c.17758C>A	NP_115495.3:p.Leu5920Ile
NR_003149.1:n.17771C>A
XM_011543675.1:c.17755C>A	XP_011541977.1:p.Leu5919Ile
XM_011543676.1:c.17677C>A	XP_011541978.1:p.Leu5893Ile
XM_011543677.1:c.15061C>A	XP_011541979.1:p.Leu5021Ile
NM_032119.4:c.17758C>A MANE Select	NP_115495.3:p.Leu5920Ile
XM_017009963.2:c.17779C>A	XP_016865452.1:p.Leu5927Ile
XM_017009964.2:c.17776C>A	XP_016865453.1:p.Leu5926Ile
XM_017009965.1:c.17776C>A	XP_016865454.1:p.Leu5926Ile
XM_017009966.2:c.17698C>A	XP_016865455.1:p.Leu5900Ile
XM_017009967.1:c.17683C>A	XP_016865456.1:p.Leu5895Ile
XM_017009968.2:c.17599C>A	XP_016865457.1:p.Leu5867Ile
XM_017009969.2:c.17779C>A	XP_016865458.1:p.Leu5927Ile
XM_017009972.1:c.10897C>A	XP_016865461.1:p.Leu3633Ile
XM_017009973.1:c.10876C>A	XP_016865462.1:p.Leu3626Ile
NR_003149.2:n.17774C>A