Canonical Allele Identifier: CA10576659

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 228717
• ClinVar RCV Id: RCV000222486 ; RCV001240566
• dbSNP Id: rs876657822
• gnomAD v2: 5-89913741-G-A
• gnomAD v3: 5-90617924-G-A
• gnomAD v4: 5-90617924-G-A
• COSMIC: COSM3140491
• MyVariant Identifiers: chr5:g.89913741G>A (hg19) ; chr5:g.89913741_89913742delinsAA (hg19) ; chr5:g.90617924G>A (hg38) ; chr5:g.90617924_90617925delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617924G>A , CM000667.2:g.90617924G>A	GRCh38
NC_000005.9:g.89913741G>A , CM000667.1:g.89913741G>A	GRCh37
NC_000005.8:g.89949497G>A	NCBI36
NG_007083.1:g.64125G>A
NG_007083.2:g.93581G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.328G>A MANE Select	ENSP00000384582.2:p.Glu110Lys
ENST00000638316.1:n.538G>A
ENST00000638638.1:n.735G>A
ENST00000640083.1:n.33G>A
ENST00000640109.1:n.424G>A
ENST00000640281.1:n.387G>A
ENST00000405460.6:c.328G>A	ENSP00000384582.2:p.Glu110Lys
ENST00000508842.5:c.340G>A	ENSP00000425936.1:p.Glu114Lys
NM_032119.3:c.328G>A	NP_115495.3:p.Glu110Lys
NR_003149.1:n.424G>A
XM_011543675.1:c.328G>A	XP_011541977.1:p.Glu110Lys
XM_011543676.1:c.328G>A	XP_011541978.1:p.Glu110Lys
XM_011543678.1:c.328G>A	XP_011541980.1:p.Glu110Lys
XM_011543679.1:c.328G>A	XP_011541981.1:p.Glu110Lys
NM_032119.4:c.328G>A MANE Select	NP_115495.3:p.Glu110Lys
XM_017009963.2:c.328G>A	XP_016865452.1:p.Glu110Lys
XM_017009964.2:c.328G>A	XP_016865453.1:p.Glu110Lys
XM_017009965.1:c.325G>A	XP_016865454.1:p.Glu109Lys
XM_017009966.2:c.328G>A	XP_016865455.1:p.Glu110Lys
XM_017009967.1:c.328G>A	XP_016865456.1:p.Glu110Lys
XM_017009968.2:c.328G>A	XP_016865457.1:p.Glu110Lys
XM_017009969.2:c.328G>A	XP_016865458.1:p.Glu110Lys
XM_017009970.2:c.328G>A	XP_016865459.1:p.Glu110Lys
XM_017009971.2:c.328G>A	XP_016865460.1:p.Glu110Lys
XM_017009974.2:c.328G>A	XP_016865463.1:p.Glu110Lys
NR_003149.2:n.427G>A