Canonical Allele Identifier: CA138196

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46363
• ClinVar RCV Id: RCV000039619 ; RCV000958817 ; RCV001154581 ; RCV003258658
• dbSNP Id: rs111033452
• ExAC: 5:89989749 C / T
• gnomAD v2: 5-89989749-C-T
• gnomAD v3: 5-90693932-C-T
• gnomAD v4: 5-90693932-C-T
• MyVariant Identifiers: chr5:g.89989749C>T (hg19) ; chr5:g.90693932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90693932C>T , CM000667.2:g.90693932C>T	GRCh38
NC_000005.9:g.89989749C>T , CM000667.1:g.89989749C>T	GRCh37
NC_000005.8:g.90025505C>T	NCBI36
NG_007083.1:g.140133C>T
NG_007083.2:g.169589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7176C>T MANE Select	ENSP00000384582.2:p.Ser2392=
ENST00000639431.1:c.265+17723C>T	ENSP00000491057.1:n.265+17723C>T
ENST00000639473.1:n.2635C>T
ENST00000640012.1:c.983C>T
ENST00000640374.1:n.320C>T
ENST00000640403.1:c.4467C>T	ENSP00000492531.1:p.Ser1489=
ENST00000640779.1:c.1905C>T
ENST00000405460.6:c.7176C>T	ENSP00000384582.2:p.Ser2392=
NM_032119.3:c.7176C>T	NP_115495.3:p.Ser2392=
NR_003149.1:n.7189C>T
XM_011543675.1:c.7173C>T	XP_011541977.1:p.Ser2391=
XM_011543676.1:c.7095C>T	XP_011541978.1:p.Ser2365=
XM_011543677.1:c.4479C>T	XP_011541979.1:p.Ser1493=
XM_011543678.1:c.7176C>T	XP_011541980.1:p.Ser2392=
XM_011543679.1:c.7176C>T	XP_011541981.1:p.Ser2392=
NM_032119.4:c.7176C>T MANE Select	NP_115495.3:p.Ser2392=
XM_017009963.2:c.7176C>T	XP_016865452.1:p.Ser2392=
XM_017009964.2:c.7173C>T	XP_016865453.1:p.Ser2391=
XM_017009965.1:c.7173C>T	XP_016865454.1:p.Ser2391=
XM_017009966.2:c.7095C>T	XP_016865455.1:p.Ser2365=
XM_017009967.1:c.7080C>T	XP_016865456.1:p.Ser2360=
XM_017009968.2:c.7176C>T	XP_016865457.1:p.Ser2392=
XM_017009969.2:c.7176C>T	XP_016865458.1:p.Ser2392=
XM_017009970.2:c.7176C>T	XP_016865459.1:p.Ser2392=
XM_017009971.2:c.7176C>T	XP_016865460.1:p.Ser2392=
XM_017009972.1:c.294C>T	XP_016865461.1:p.Ser98=
XM_017009973.1:c.294C>T	XP_016865462.1:p.Ser98=
XM_017009974.2:c.7176C>T	XP_016865463.1:p.Ser2392=
NR_003149.2:n.7192C>T