Canonical Allele Identifier: CA3339532

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 283192
• ClinVar RCV Id: RCV000375857 ; RCV001155225 ; RCV004547676
• dbSNP Id: rs748976832
• ExAC: 5:89971266 A / G
• gnomAD v2: 5-89971266-A-G
• gnomAD v3: 5-90675449-A-G
• gnomAD v4: 5-90675449-A-G
• MyVariant Identifiers: chr5:g.89971266A>G (hg19) ; chr5:g.90675449A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90675449A>G , CM000667.2:g.90675449A>G	GRCh38
NC_000005.9:g.89971266A>G , CM000667.1:g.89971266A>G	GRCh37
NC_000005.8:g.90007022A>G	NCBI36
NG_007083.1:g.121650A>G
NG_007083.2:g.151106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.5313+4A>G MANE Select	ENSP00000384582.2:n.5313+4A>G
ENST00000639431.1:c.135+4A>G	ENSP00000491057.1:n.135+4A>G
ENST00000639473.1:n.772+4A>G
ENST00000640403.1:c.2604+4A>G	ENSP00000492531.1:n.2604+4A>G
ENST00000640779.1:c.128+4A>G
ENST00000405460.6:c.5313+4A>G	ENSP00000384582.2:n.5313+4A>G
ENST00000450321.2:n.648+4A>G
NM_032119.3:c.5313+4A>G	NP_115495.3:n.5313+4A>G
NR_003149.1:n.5409+4A>G
XM_011543675.1:c.5313+4A>G	XP_011541977.1:n.5313+4A>G
XM_011543676.1:c.5313+4A>G	XP_011541978.1:n.5313+4A>G
XM_011543677.1:c.2616+4A>G	XP_011541979.1:n.2616+4A>G
XM_011543678.1:c.5313+4A>G	XP_011541980.1:n.5313+4A>G
XM_011543679.1:c.5313+4A>G	XP_011541981.1:n.5313+4A>G
NM_032119.4:c.5313+4A>G MANE Select	NP_115495.3:n.5313+4A>G
XM_017009963.2:c.5313+4A>G	XP_016865452.1:n.5313+4A>G
XM_017009964.2:c.5313+4A>G	XP_016865453.1:n.5313+4A>G
XM_017009965.1:c.5310+4A>G	XP_016865454.1:n.5310+4A>G
XM_017009966.2:c.5313+4A>G	XP_016865455.1:n.5313+4A>G
XM_017009967.1:c.5217+4A>G	XP_016865456.1:n.5217+4A>G
XM_017009968.2:c.5313+4A>G	XP_016865457.1:n.5313+4A>G
XM_017009969.2:c.5313+4A>G	XP_016865458.1:n.5313+4A>G
XM_017009970.2:c.5313+4A>G	XP_016865459.1:n.5313+4A>G
XM_017009971.2:c.5313+4A>G	XP_016865460.1:n.5313+4A>G
XM_017009973.1:c.-1484+4A>G	XP_016865462.1:n.-1484+4A>G
XM_017009974.2:c.5313+4A>G	XP_016865463.1:n.5313+4A>G
NR_003149.2:n.5412+4A>G