Canonical Allele Identifier: CA360396300

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2295992
• ClinVar RCV Id: RCV002850101
• MyVariant Identifiers: chr5:g.90008186A>G (hg19) ; chr5:g.90712369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712369A>G , CM000667.2:g.90712369A>G	GRCh38
NC_000005.9:g.90008186A>G , CM000667.1:g.90008186A>G	GRCh37
NC_000005.8:g.90043942A>G	NCBI36
NG_007083.1:g.158570A>G
NG_007083.2:g.188026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9125A>G MANE Select	ENSP00000384582.2:p.Lys3042Arg
ENST00000639431.1:c.265+36160A>G	ENSP00000491057.1:n.265+36160A>G
ENST00000639473.1:n.4584A>G
ENST00000640012.1:c.2932A>G
ENST00000640374.1:n.2269A>G
ENST00000640779.1:c.3854A>G
ENST00000405460.6:c.9125A>G	ENSP00000384582.2:p.Lys3042Arg
ENST00000509621.1:c.1822A>G
NM_032119.3:c.9125A>G	NP_115495.3:p.Lys3042Arg
NR_003149.1:n.9138A>G
XM_011543675.1:c.9122A>G	XP_011541977.1:p.Lys3041Arg
XM_011543676.1:c.9044A>G	XP_011541978.1:p.Lys3015Arg
XM_011543677.1:c.6428A>G	XP_011541979.1:p.Lys2143Arg
XM_011543678.1:c.9125A>G	XP_011541980.1:p.Lys3042Arg
XM_011543679.1:c.9125A>G	XP_011541981.1:p.Lys3042Arg
NM_032119.4:c.9125A>G MANE Select	NP_115495.3:p.Lys3042Arg
XM_017009963.2:c.9146A>G	XP_016865452.1:p.Lys3049Arg
XM_017009964.2:c.9143A>G	XP_016865453.1:p.Lys3048Arg
XM_017009965.1:c.9143A>G	XP_016865454.1:p.Lys3048Arg
XM_017009966.2:c.9065A>G	XP_016865455.1:p.Lys3022Arg
XM_017009967.1:c.9050A>G	XP_016865456.1:p.Lys3017Arg
XM_017009968.2:c.9146A>G	XP_016865457.1:p.Lys3049Arg
XM_017009969.2:c.9146A>G	XP_016865458.1:p.Lys3049Arg
XM_017009970.2:c.9146A>G	XP_016865459.1:p.Lys3049Arg
XM_017009971.2:c.9146A>G	XP_016865460.1:p.Lys3049Arg
XM_017009972.1:c.2264A>G	XP_016865461.1:p.Lys755Arg
XM_017009973.1:c.2243A>G	XP_016865462.1:p.Lys748Arg
XM_017009974.2:c.9146A>G	XP_016865463.1:p.Lys3049Arg
NR_003149.2:n.9141A>G