Canonical Allele Identifier: CA360372000

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1161789625
• gnomAD v2: 5-89988585-A-C
• gnomAD v3: 5-90692768-A-C
• gnomAD v4: 5-90692768-A-C
• MyVariant Identifiers: chr5:g.89988585A>C (hg19) ; chr5:g.90692768A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692768A>C , CM000667.2:g.90692768A>C	GRCh38
NC_000005.9:g.89988585A>C , CM000667.1:g.89988585A>C	GRCh37
NC_000005.8:g.90024341A>C	NCBI36
NG_007083.1:g.138969A>C
NG_007083.2:g.168425A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7115A>C MANE Select	ENSP00000384582.2:p.Asn2372Thr
ENST00000639431.1:c.265+16559A>C	ENSP00000491057.1:n.265+16559A>C
ENST00000639473.1:n.2574A>C
ENST00000640012.1:c.922A>C
ENST00000640374.1:n.259A>C
ENST00000640403.1:c.4406A>C	ENSP00000492531.1:p.Asn1469Thr
ENST00000640779.1:c.1844A>C
ENST00000405460.6:c.7115A>C	ENSP00000384582.2:p.Asn2372Thr
NM_032119.3:c.7115A>C	NP_115495.3:p.Asn2372Thr
NR_003149.1:n.7128A>C
XM_011543675.1:c.7112A>C	XP_011541977.1:p.Asn2371Thr
XM_011543676.1:c.7034A>C	XP_011541978.1:p.Asn2345Thr
XM_011543677.1:c.4418A>C	XP_011541979.1:p.Asn1473Thr
XM_011543678.1:c.7115A>C	XP_011541980.1:p.Asn2372Thr
XM_011543679.1:c.7115A>C	XP_011541981.1:p.Asn2372Thr
NM_032119.4:c.7115A>C MANE Select	NP_115495.3:p.Asn2372Thr
XM_017009963.2:c.7115A>C	XP_016865452.1:p.Asn2372Thr
XM_017009964.2:c.7112A>C	XP_016865453.1:p.Asn2371Thr
XM_017009965.1:c.7112A>C	XP_016865454.1:p.Asn2371Thr
XM_017009966.2:c.7034A>C	XP_016865455.1:p.Asn2345Thr
XM_017009967.1:c.7019A>C	XP_016865456.1:p.Asn2340Thr
XM_017009968.2:c.7115A>C	XP_016865457.1:p.Asn2372Thr
XM_017009969.2:c.7115A>C	XP_016865458.1:p.Asn2372Thr
XM_017009970.2:c.7115A>C	XP_016865459.1:p.Asn2372Thr
XM_017009971.2:c.7115A>C	XP_016865460.1:p.Asn2372Thr
XM_017009972.1:c.233A>C	XP_016865461.1:p.Asn78Thr
XM_017009973.1:c.233A>C	XP_016865462.1:p.Asn78Thr
XM_017009974.2:c.7115A>C	XP_016865463.1:p.Asn2372Thr
NR_003149.2:n.7131A>C