Canonical Allele Identifier: CA172275

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 158652
• ClinVar RCV Id: RCV000146080 ; RCV000833691
• dbSNP Id: rs4916683
• ExAC: 5:89979380 T / C
• gnomAD v2: 5-89979380-T-C
• gnomAD v3: 5-90683563-T-C
• gnomAD v4: 5-90683563-T-C
• MyVariant Identifiers: chr5:g.89979380T>C (hg19) ; chr5:g.90683563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90683563T>C , CM000667.2:g.90683563T>C	GRCh38
NC_000005.9:g.89979380T>C , CM000667.1:g.89979380T>C	GRCh37
NC_000005.8:g.90015136T>C	NCBI36
NG_007083.1:g.129764T>C
NG_007083.2:g.159220T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.5665-23T>C MANE Select	ENSP00000384582.2:n.5665-23T>C
ENST00000639431.1:c.265+7354T>C	ENSP00000491057.1:n.265+7354T>C
ENST00000639473.1:n.1124-23T>C
ENST00000640012.1:c.164+2109T>C
ENST00000640403.1:c.2956-23T>C	ENSP00000492531.1:n.2956-23T>C
ENST00000640779.1:c.477-23T>C
ENST00000405460.6:c.5665-23T>C	ENSP00000384582.2:n.5665-23T>C
NM_032119.3:c.5665-23T>C	NP_115495.3:n.5665-23T>C
NR_003149.1:n.5761-23T>C
XM_011543675.1:c.5662-23T>C	XP_011541977.1:n.5662-23T>C
XM_011543676.1:c.5584-23T>C	XP_011541978.1:n.5584-23T>C
XM_011543677.1:c.2968-23T>C	XP_011541979.1:n.2968-23T>C
XM_011543678.1:c.5665-23T>C	XP_011541980.1:n.5665-23T>C
XM_011543679.1:c.5665-23T>C	XP_011541981.1:n.5665-23T>C
NM_032119.4:c.5665-23T>C MANE Select	NP_115495.3:n.5665-23T>C
XM_017009963.2:c.5665-23T>C	XP_016865452.1:n.5665-23T>C
XM_017009964.2:c.5662-23T>C	XP_016865453.1:n.5662-23T>C
XM_017009965.1:c.5662-23T>C	XP_016865454.1:n.5662-23T>C
XM_017009966.2:c.5584-23T>C	XP_016865455.1:n.5584-23T>C
XM_017009967.1:c.5569-23T>C	XP_016865456.1:n.5569-23T>C
XM_017009968.2:c.5665-23T>C	XP_016865457.1:n.5665-23T>C
XM_017009969.2:c.5665-23T>C	XP_016865458.1:n.5665-23T>C
XM_017009970.2:c.5665-23T>C	XP_016865459.1:n.5665-23T>C
XM_017009971.2:c.5665-23T>C	XP_016865460.1:n.5665-23T>C
XM_017009973.1:c.-1135-23T>C	XP_016865462.1:n.-1135-23T>C
XM_017009974.2:c.5665-23T>C	XP_016865463.1:n.5665-23T>C
NR_003149.2:n.5764-23T>C