Canonical Allele Identifier: CA138218

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46376
• ClinVar RCV Id: RCV000039632 ; RCV000710460 ; RCV001155422
• dbSNP Id: rs75191159
• ExAC: 5:89990149 A / G
• gnomAD v2: 5-89990149-A-G
• gnomAD v3: 5-90694332-A-G
• gnomAD v4: 5-90694332-A-G
• MyVariant Identifiers: chr5:g.89990149A>G (hg19) ; chr5:g.90694332A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90694332A>G , CM000667.2:g.90694332A>G	GRCh38
NC_000005.9:g.89990149A>G , CM000667.1:g.89990149A>G	GRCh37
NC_000005.8:g.90025905A>G	NCBI36
NG_007083.1:g.140533A>G
NG_007083.2:g.169989A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.7576A>G MANE Select	ENSP00000384582.2:p.Ile2526Val
ENST00000639431.1:c.265+18123A>G	ENSP00000491057.1:n.265+18123A>G
ENST00000639473.1:n.3035A>G
ENST00000640012.1:c.1383A>G
ENST00000640374.1:n.720A>G
ENST00000640403.1:c.4867A>G	ENSP00000492531.1:p.Ile1623Val
ENST00000640779.1:c.2305A>G
ENST00000405460.6:c.7576A>G	ENSP00000384582.2:p.Ile2526Val
ENST00000509621.1:c.273A>G
NM_032119.3:c.7576A>G	NP_115495.3:p.Ile2526Val
NR_003149.1:n.7589A>G
XM_011543675.1:c.7573A>G	XP_011541977.1:p.Ile2525Val
XM_011543676.1:c.7495A>G	XP_011541978.1:p.Ile2499Val
XM_011543677.1:c.4879A>G	XP_011541979.1:p.Ile1627Val
XM_011543678.1:c.7576A>G	XP_011541980.1:p.Ile2526Val
XM_011543679.1:c.7576A>G	XP_011541981.1:p.Ile2526Val
NM_032119.4:c.7576A>G MANE Select	NP_115495.3:p.Ile2526Val
XM_017009963.2:c.7576A>G	XP_016865452.1:p.Ile2526Val
XM_017009964.2:c.7573A>G	XP_016865453.1:p.Ile2525Val
XM_017009965.1:c.7573A>G	XP_016865454.1:p.Ile2525Val
XM_017009966.2:c.7495A>G	XP_016865455.1:p.Ile2499Val
XM_017009967.1:c.7480A>G	XP_016865456.1:p.Ile2494Val
XM_017009968.2:c.7576A>G	XP_016865457.1:p.Ile2526Val
XM_017009969.2:c.7576A>G	XP_016865458.1:p.Ile2526Val
XM_017009970.2:c.7576A>G	XP_016865459.1:p.Ile2526Val
XM_017009971.2:c.7576A>G	XP_016865460.1:p.Ile2526Val
XM_017009972.1:c.694A>G	XP_016865461.1:p.Ile232Val
XM_017009973.1:c.694A>G	XP_016865462.1:p.Ile232Val
XM_017009974.2:c.7576A>G	XP_016865463.1:p.Ile2526Val
NR_003149.2:n.7592A>G