Canonical Allele Identifier: CA360408942

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1174029549
• gnomAD v2: 5-90041451-A-G
• gnomAD v3: 5-90745634-A-G
• gnomAD v4: 5-90745634-A-G
• MyVariant Identifiers: chr5:g.90041451A>G (hg19) ; chr5:g.90745634A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745634A>G , CM000667.2:g.90745634A>G	GRCh38
NC_000005.9:g.90041451A>G , CM000667.1:g.90041451A>G	GRCh37
NC_000005.8:g.90077207A>G	NCBI36
NG_007083.1:g.191835A>G
NG_007083.2:g.221291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10813A>G MANE Select	ENSP00000384582.2:p.Ile3605Val
ENST00000639431.1:c.265+69425A>G	ENSP00000491057.1:n.265+69425A>G
ENST00000640374.1:n.3957A>G
ENST00000640464.1:n.1232A>G
ENST00000405460.6:c.10813A>G	ENSP00000384582.2:p.Ile3605Val
ENST00000509621.1:c.3510A>G
NM_032119.3:c.10813A>G	NP_115495.3:p.Ile3605Val
NR_003149.1:n.10826A>G
XM_011543675.1:c.10810A>G	XP_011541977.1:p.Ile3604Val
XM_011543676.1:c.10732A>G	XP_011541978.1:p.Ile3578Val
XM_011543677.1:c.8116A>G	XP_011541979.1:p.Ile2706Val
XM_011543678.1:c.10813A>G	XP_011541980.1:p.Ile3605Val
XM_011543679.1:c.*35A>G	XP_011541981.1:n.*35A>G
NM_032119.4:c.10813A>G MANE Select	NP_115495.3:p.Ile3605Val
XM_017009963.2:c.10834A>G	XP_016865452.1:p.Ile3612Val
XM_017009964.2:c.10831A>G	XP_016865453.1:p.Ile3611Val
XM_017009965.1:c.10831A>G	XP_016865454.1:p.Ile3611Val
XM_017009966.2:c.10753A>G	XP_016865455.1:p.Ile3585Val
XM_017009967.1:c.10738A>G	XP_016865456.1:p.Ile3580Val
XM_017009968.2:c.10834A>G	XP_016865457.1:p.Ile3612Val
XM_017009969.2:c.10834A>G	XP_016865458.1:p.Ile3612Val
XM_017009970.2:c.10834A>G	XP_016865459.1:p.Ile3612Val
XM_017009971.2:c.10834A>G	XP_016865460.1:p.Ile3612Val
XM_017009972.1:c.3952A>G	XP_016865461.1:p.Ile1318Val
XM_017009973.1:c.3931A>G	XP_016865462.1:p.Ile1311Val
XM_017009974.2:c.*35A>G	XP_016865463.1:n.*35A>G
NR_003149.2:n.10829A>G