Canonical Allele Identifier: CA3340188

Gene: ADGRV1

Linked Data

• dbSNP Id: rs563844636
• ExAC: 5:89999509 G / T
• gnomAD v2: 5-89999509-G-T
• gnomAD v3: 5-90703692-G-T
• gnomAD v4: 5-90703692-G-T
• MyVariant Identifiers: chr5:g.89999509G>T (hg19) ; chr5:g.90703692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90703692G>T , CM000667.2:g.90703692G>T	GRCh38
NC_000005.9:g.89999509G>T , CM000667.1:g.89999509G>T	GRCh37
NC_000005.8:g.90035265G>T	NCBI36
NG_007083.1:g.149893G>T
NG_007083.2:g.179349G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.8183G>T MANE Select	ENSP00000384582.2:p.Arg2728Ile
ENST00000639431.1:c.265+27483G>T	ENSP00000491057.1:n.265+27483G>T
ENST00000639473.1:n.3642G>T
ENST00000640012.1:c.1990G>T
ENST00000640374.1:n.1327G>T
ENST00000640403.1:c.5474G>T	ENSP00000492531.1:p.Arg1825Ile
ENST00000640779.1:c.2912G>T
ENST00000405460.6:c.8183G>T	ENSP00000384582.2:p.Arg2728Ile
ENST00000509621.1:c.880G>T
NM_032119.3:c.8183G>T	NP_115495.3:p.Arg2728Ile
NR_003149.1:n.8196G>T
XM_011543675.1:c.8180G>T	XP_011541977.1:p.Arg2727Ile
XM_011543676.1:c.8102G>T	XP_011541978.1:p.Arg2701Ile
XM_011543677.1:c.5486G>T	XP_011541979.1:p.Arg1829Ile
XM_011543678.1:c.8183G>T	XP_011541980.1:p.Arg2728Ile
XM_011543679.1:c.8183G>T	XP_011541981.1:p.Arg2728Ile
NM_032119.4:c.8183G>T MANE Select	NP_115495.3:p.Arg2728Ile
XM_017009963.2:c.8183G>T	XP_016865452.1:p.Arg2728Ile
XM_017009964.2:c.8180G>T	XP_016865453.1:p.Arg2727Ile
XM_017009965.1:c.8180G>T	XP_016865454.1:p.Arg2727Ile
XM_017009966.2:c.8102G>T	XP_016865455.1:p.Arg2701Ile
XM_017009967.1:c.8087G>T	XP_016865456.1:p.Arg2696Ile
XM_017009968.2:c.8183G>T	XP_016865457.1:p.Arg2728Ile
XM_017009969.2:c.8183G>T	XP_016865458.1:p.Arg2728Ile
XM_017009970.2:c.8183G>T	XP_016865459.1:p.Arg2728Ile
XM_017009971.2:c.8183G>T	XP_016865460.1:p.Arg2728Ile
XM_017009972.1:c.1301G>T	XP_016865461.1:p.Arg434Ile
XM_017009973.1:c.1301G>T	XP_016865462.1:p.Arg434Ile
XM_017009974.2:c.8183G>T	XP_016865463.1:p.Arg2728Ile
NR_003149.2:n.8199G>T