Canonical Allele Identifier: CA138188

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46359
• ClinVar RCV Id: RCV000039615 ; RCV000725221 ; RCV000987537
• dbSNP Id: rs193030567
• ExAC: 5:89988464 A / T
• gnomAD v2: 5-89988464-A-T
• gnomAD v3: 5-90692647-A-T
• gnomAD v4: 5-90692647-A-T
• MyVariant Identifiers: chr5:g.89988464A>T (hg19) ; chr5:g.90692647A>T (hg38)
• PubMed: PMID:26969326

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692647A>T , CM000667.2:g.90692647A>T	GRCh38
NC_000005.9:g.89988464A>T , CM000667.1:g.89988464A>T	GRCh37
NC_000005.8:g.90024220A>T	NCBI36
NG_007083.1:g.138848A>T
NG_007083.2:g.168304A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6994A>T MANE Select	ENSP00000384582.2:p.Ile2332Phe
ENST00000639431.1:c.265+16438A>T	ENSP00000491057.1:n.265+16438A>T
ENST00000639473.1:n.2453A>T
ENST00000640012.1:c.801A>T
ENST00000640374.1:n.138A>T
ENST00000640403.1:c.4285A>T	ENSP00000492531.1:p.Ile1429Phe
ENST00000640779.1:c.1723A>T
ENST00000405460.6:c.6994A>T	ENSP00000384582.2:p.Ile2332Phe
NM_032119.3:c.6994A>T	NP_115495.3:p.Ile2332Phe
NR_003149.1:n.7007A>T
XM_011543675.1:c.6991A>T	XP_011541977.1:p.Ile2331Phe
XM_011543676.1:c.6913A>T	XP_011541978.1:p.Ile2305Phe
XM_011543677.1:c.4297A>T	XP_011541979.1:p.Ile1433Phe
XM_011543678.1:c.6994A>T	XP_011541980.1:p.Ile2332Phe
XM_011543679.1:c.6994A>T	XP_011541981.1:p.Ile2332Phe
NM_032119.4:c.6994A>T MANE Select	NP_115495.3:p.Ile2332Phe
XM_017009963.2:c.6994A>T	XP_016865452.1:p.Ile2332Phe
XM_017009964.2:c.6991A>T	XP_016865453.1:p.Ile2331Phe
XM_017009965.1:c.6991A>T	XP_016865454.1:p.Ile2331Phe
XM_017009966.2:c.6913A>T	XP_016865455.1:p.Ile2305Phe
XM_017009967.1:c.6898A>T	XP_016865456.1:p.Ile2300Phe
XM_017009968.2:c.6994A>T	XP_016865457.1:p.Ile2332Phe
XM_017009969.2:c.6994A>T	XP_016865458.1:p.Ile2332Phe
XM_017009970.2:c.6994A>T	XP_016865459.1:p.Ile2332Phe
XM_017009971.2:c.6994A>T	XP_016865460.1:p.Ile2332Phe
XM_017009972.1:c.112A>T	XP_016865461.1:p.Ile38Phe
XM_017009973.1:c.112A>T	XP_016865462.1:p.Ile38Phe
XM_017009974.2:c.6994A>T	XP_016865463.1:p.Ile2332Phe
NR_003149.2:n.7010A>T