Canonical Allele Identifier: CA360409173

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1754545122
• gnomAD v4: 5-90745686-A-G
• MyVariant Identifiers: chr5:g.90041503A>G (hg19) ; chr5:g.90745686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745686A>G , CM000667.2:g.90745686A>G	GRCh38
NC_000005.9:g.90041503A>G , CM000667.1:g.90041503A>G	GRCh37
NC_000005.8:g.90077259A>G	NCBI36
NG_007083.1:g.191887A>G
NG_007083.2:g.221343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10865A>G MANE Select	ENSP00000384582.2:p.Lys3622Arg
ENST00000639431.1:c.265+69477A>G	ENSP00000491057.1:n.265+69477A>G
ENST00000640374.1:n.4009A>G
ENST00000640464.1:n.1284A>G
ENST00000405460.6:c.10865A>G	ENSP00000384582.2:p.Lys3622Arg
ENST00000509621.1:c.3562A>G
NM_032119.3:c.10865A>G	NP_115495.3:p.Lys3622Arg
NR_003149.1:n.10878A>G
XM_011543675.1:c.10862A>G	XP_011541977.1:p.Lys3621Arg
XM_011543676.1:c.10784A>G	XP_011541978.1:p.Lys3595Arg
XM_011543677.1:c.8168A>G	XP_011541979.1:p.Lys2723Arg
XM_011543678.1:c.10865A>G	XP_011541980.1:p.Lys3622Arg
XM_011543679.1:c.*87A>G	XP_011541981.1:n.*87A>G
NM_032119.4:c.10865A>G MANE Select	NP_115495.3:p.Lys3622Arg
XM_017009963.2:c.10886A>G	XP_016865452.1:p.Lys3629Arg
XM_017009964.2:c.10883A>G	XP_016865453.1:p.Lys3628Arg
XM_017009965.1:c.10883A>G	XP_016865454.1:p.Lys3628Arg
XM_017009966.2:c.10805A>G	XP_016865455.1:p.Lys3602Arg
XM_017009967.1:c.10790A>G	XP_016865456.1:p.Lys3597Arg
XM_017009968.2:c.10886A>G	XP_016865457.1:p.Lys3629Arg
XM_017009969.2:c.10886A>G	XP_016865458.1:p.Lys3629Arg
XM_017009970.2:c.10886A>G	XP_016865459.1:p.Lys3629Arg
XM_017009971.2:c.10886A>G	XP_016865460.1:p.Lys3629Arg
XM_017009972.1:c.4004A>G	XP_016865461.1:p.Lys1335Arg
XM_017009973.1:c.3983A>G	XP_016865462.1:p.Lys1328Arg
XM_017009974.2:c.*87A>G	XP_016865463.1:n.*87A>G
NR_003149.2:n.10881A>G