Canonical Allele Identifier: CA360409167

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1396190264
• gnomAD v2: 5-90041502-A-G
• gnomAD v4: 5-90745685-A-G
• MyVariant Identifiers: chr5:g.90041502A>G (hg19) ; chr5:g.90745685A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745685A>G , CM000667.2:g.90745685A>G	GRCh38
NC_000005.9:g.90041502A>G , CM000667.1:g.90041502A>G	GRCh37
NC_000005.8:g.90077258A>G	NCBI36
NG_007083.1:g.191886A>G
NG_007083.2:g.221342A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10864A>G MANE Select	ENSP00000384582.2:p.Lys3622Glu
ENST00000639431.1:c.265+69476A>G	ENSP00000491057.1:n.265+69476A>G
ENST00000640374.1:n.4008A>G
ENST00000640464.1:n.1283A>G
ENST00000405460.6:c.10864A>G	ENSP00000384582.2:p.Lys3622Glu
ENST00000509621.1:c.3561A>G
NM_032119.3:c.10864A>G	NP_115495.3:p.Lys3622Glu
NR_003149.1:n.10877A>G
XM_011543675.1:c.10861A>G	XP_011541977.1:p.Lys3621Glu
XM_011543676.1:c.10783A>G	XP_011541978.1:p.Lys3595Glu
XM_011543677.1:c.8167A>G	XP_011541979.1:p.Lys2723Glu
XM_011543678.1:c.10864A>G	XP_011541980.1:p.Lys3622Glu
XM_011543679.1:c.*86A>G	XP_011541981.1:n.*86A>G
NM_032119.4:c.10864A>G MANE Select	NP_115495.3:p.Lys3622Glu
XM_017009963.2:c.10885A>G	XP_016865452.1:p.Lys3629Glu
XM_017009964.2:c.10882A>G	XP_016865453.1:p.Lys3628Glu
XM_017009965.1:c.10882A>G	XP_016865454.1:p.Lys3628Glu
XM_017009966.2:c.10804A>G	XP_016865455.1:p.Lys3602Glu
XM_017009967.1:c.10789A>G	XP_016865456.1:p.Lys3597Glu
XM_017009968.2:c.10885A>G	XP_016865457.1:p.Lys3629Glu
XM_017009969.2:c.10885A>G	XP_016865458.1:p.Lys3629Glu
XM_017009970.2:c.10885A>G	XP_016865459.1:p.Lys3629Glu
XM_017009971.2:c.10885A>G	XP_016865460.1:p.Lys3629Glu
XM_017009972.1:c.4003A>G	XP_016865461.1:p.Lys1335Glu
XM_017009973.1:c.3982A>G	XP_016865462.1:p.Lys1328Glu
XM_017009974.2:c.*86A>G	XP_016865463.1:n.*86A>G
NR_003149.2:n.10880A>G