Canonical Allele Identifier: CA3340485

Gene: ADGRV1

Linked Data

• dbSNP Id: rs754311282
• ExAC: 5:90012486 A / G
• gnomAD v2: 5-90012486-A-G
• gnomAD v3: 5-90716669-A-G
• gnomAD v4: 5-90716669-A-G
• MyVariant Identifiers: chr5:g.90012486A>G (hg19) ; chr5:g.90716669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716669A>G , CM000667.2:g.90716669A>G	GRCh38
NC_000005.9:g.90012486A>G , CM000667.1:g.90012486A>G	GRCh37
NC_000005.8:g.90048242A>G	NCBI36
NG_007083.1:g.162870A>G
NG_007083.2:g.192326A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9387A>G MANE Select	ENSP00000384582.2:p.Glu3129=
ENST00000639431.1:c.265+40460A>G	ENSP00000491057.1:n.265+40460A>G
ENST00000639473.1:n.4846A>G
ENST00000640012.1:c.3194A>G
ENST00000640374.1:n.2531A>G
ENST00000640779.1:c.4116A>G
ENST00000405460.6:c.9387A>G	ENSP00000384582.2:p.Glu3129=
ENST00000509621.1:c.2084A>G
NM_032119.3:c.9387A>G	NP_115495.3:p.Glu3129=
NR_003149.1:n.9400A>G
XM_011543675.1:c.9384A>G	XP_011541977.1:p.Glu3128=
XM_011543676.1:c.9306A>G	XP_011541978.1:p.Glu3102=
XM_011543677.1:c.6690A>G	XP_011541979.1:p.Glu2230=
XM_011543678.1:c.9387A>G	XP_011541980.1:p.Glu3129=
XM_011543679.1:c.9387A>G	XP_011541981.1:p.Glu3129=
XR_948560.1:n.272-860T>C
NM_032119.4:c.9387A>G MANE Select	NP_115495.3:p.Glu3129=
XM_017009963.2:c.9408A>G	XP_016865452.1:p.Glu3136=
XM_017009964.2:c.9405A>G	XP_016865453.1:p.Glu3135=
XM_017009965.1:c.9405A>G	XP_016865454.1:p.Glu3135=
XM_017009966.2:c.9327A>G	XP_016865455.1:p.Glu3109=
XM_017009967.1:c.9312A>G	XP_016865456.1:p.Glu3104=
XM_017009968.2:c.9408A>G	XP_016865457.1:p.Glu3136=
XM_017009969.2:c.9408A>G	XP_016865458.1:p.Glu3136=
XM_017009970.2:c.9408A>G	XP_016865459.1:p.Glu3136=
XM_017009971.2:c.9408A>G	XP_016865460.1:p.Glu3136=
XM_017009972.1:c.2526A>G	XP_016865461.1:p.Glu842=
XM_017009973.1:c.2505A>G	XP_016865462.1:p.Glu835=
XM_017009974.2:c.9408A>G	XP_016865463.1:p.Glu3136=
XR_001742802.1:n.2523-860T>C
NR_003149.2:n.9403A>G