Canonical Allele Identifier: CA3340488

Gene: ADGRV1

Linked Data

• dbSNP Id: rs747669987
• ExAC: 5:90012512 G / T
• gnomAD v2: 5-90012512-G-T
• gnomAD v3: 5-90716695-G-T
• gnomAD v4: 5-90716695-G-T
• MyVariant Identifiers: chr5:g.90012512G>T (hg19) ; chr5:g.90716695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716695G>T , CM000667.2:g.90716695G>T	GRCh38
NC_000005.9:g.90012512G>T , CM000667.1:g.90012512G>T	GRCh37
NC_000005.8:g.90048268G>T	NCBI36
NG_007083.1:g.162896G>T
NG_007083.2:g.192352G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9413G>T MANE Select	ENSP00000384582.2:p.Gly3138Val
ENST00000639431.1:c.265+40486G>T	ENSP00000491057.1:n.265+40486G>T
ENST00000639473.1:n.4872G>T
ENST00000640012.1:c.3220G>T
ENST00000640374.1:n.2557G>T
ENST00000640779.1:c.4142G>T
ENST00000405460.6:c.9413G>T	ENSP00000384582.2:p.Gly3138Val
ENST00000509621.1:c.2110G>T
NM_032119.3:c.9413G>T	NP_115495.3:p.Gly3138Val
NR_003149.1:n.9426G>T
XM_011543675.1:c.9410G>T	XP_011541977.1:p.Gly3137Val
XM_011543676.1:c.9332G>T	XP_011541978.1:p.Gly3111Val
XM_011543677.1:c.6716G>T	XP_011541979.1:p.Gly2239Val
XM_011543678.1:c.9413G>T	XP_011541980.1:p.Gly3138Val
XM_011543679.1:c.9413G>T	XP_011541981.1:p.Gly3138Val
XR_948560.1:n.272-886C>A
NM_032119.4:c.9413G>T MANE Select	NP_115495.3:p.Gly3138Val
XM_017009963.2:c.9434G>T	XP_016865452.1:p.Gly3145Val
XM_017009964.2:c.9431G>T	XP_016865453.1:p.Gly3144Val
XM_017009965.1:c.9431G>T	XP_016865454.1:p.Gly3144Val
XM_017009966.2:c.9353G>T	XP_016865455.1:p.Gly3118Val
XM_017009967.1:c.9338G>T	XP_016865456.1:p.Gly3113Val
XM_017009968.2:c.9434G>T	XP_016865457.1:p.Gly3145Val
XM_017009969.2:c.9434G>T	XP_016865458.1:p.Gly3145Val
XM_017009970.2:c.9434G>T	XP_016865459.1:p.Gly3145Val
XM_017009971.2:c.9434G>T	XP_016865460.1:p.Gly3145Val
XM_017009972.1:c.2552G>T	XP_016865461.1:p.Gly851Val
XM_017009973.1:c.2531G>T	XP_016865462.1:p.Gly844Val
XM_017009974.2:c.9434G>T	XP_016865463.1:p.Gly3145Val
XR_001742802.1:n.2523-886C>A
NR_003149.2:n.9429G>T