Canonical Allele Identifier: CA360371732

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1707801
• ClinVar RCV Id: RCV002286962
• gnomAD v4: 5-90692740-G-C
• MyVariant Identifiers: chr5:g.89988557G>C (hg19) ; chr5:g.90692740G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692740G>C , CM000667.2:g.90692740G>C	GRCh38
NC_000005.9:g.89988557G>C , CM000667.1:g.89988557G>C	GRCh37
NC_000005.8:g.90024313G>C	NCBI36
NG_007083.1:g.138941G>C
NG_007083.2:g.168397G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.7087G>C MANE Select	ENSP00000384582.2:p.Glu2363Gln
ENST00000639431.1:c.265+16531G>C	ENSP00000491057.1:n.265+16531G>C
ENST00000639473.1:n.2546G>C
ENST00000640012.1:c.894G>C
ENST00000640374.1:n.231G>C
ENST00000640403.1:c.4378G>C	ENSP00000492531.1:p.Glu1460Gln
ENST00000640779.1:c.1816G>C
ENST00000405460.6:c.7087G>C	ENSP00000384582.2:p.Glu2363Gln
NM_032119.3:c.7087G>C	NP_115495.3:p.Glu2363Gln
NR_003149.1:n.7100G>C
XM_011543675.1:c.7084G>C	XP_011541977.1:p.Glu2362Gln
XM_011543676.1:c.7006G>C	XP_011541978.1:p.Glu2336Gln
XM_011543677.1:c.4390G>C	XP_011541979.1:p.Glu1464Gln
XM_011543678.1:c.7087G>C	XP_011541980.1:p.Glu2363Gln
XM_011543679.1:c.7087G>C	XP_011541981.1:p.Glu2363Gln
NM_032119.4:c.7087G>C MANE Select	NP_115495.3:p.Glu2363Gln
XM_017009963.2:c.7087G>C	XP_016865452.1:p.Glu2363Gln
XM_017009964.2:c.7084G>C	XP_016865453.1:p.Glu2362Gln
XM_017009965.1:c.7084G>C	XP_016865454.1:p.Glu2362Gln
XM_017009966.2:c.7006G>C	XP_016865455.1:p.Glu2336Gln
XM_017009967.1:c.6991G>C	XP_016865456.1:p.Glu2331Gln
XM_017009968.2:c.7087G>C	XP_016865457.1:p.Glu2363Gln
XM_017009969.2:c.7087G>C	XP_016865458.1:p.Glu2363Gln
XM_017009970.2:c.7087G>C	XP_016865459.1:p.Glu2363Gln
XM_017009971.2:c.7087G>C	XP_016865460.1:p.Glu2363Gln
XM_017009972.1:c.205G>C	XP_016865461.1:p.Glu69Gln
XM_017009973.1:c.205G>C	XP_016865462.1:p.Glu69Gln
XM_017009974.2:c.7087G>C	XP_016865463.1:p.Glu2363Gln
NR_003149.2:n.7103G>C