Canonical Allele Identifier: CA10588925

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 266014
• ClinVar RCV Id: RCV000256377
• dbSNP Id: rs886039893
• MyVariant Identifiers: chr5:g.89990179G>T (hg19) ; chr5:g.90694362G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90694362G>T , CM000667.2:g.90694362G>T	GRCh38
NC_000005.9:g.89990179G>T , CM000667.1:g.89990179G>T	GRCh37
NC_000005.8:g.90025935G>T	NCBI36
NG_007083.1:g.140563G>T
NG_007083.2:g.170019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7606G>T MANE Select	ENSP00000384582.2:p.Glu2536Ter
ENST00000639431.1:c.265+18153G>T	ENSP00000491057.1:n.265+18153G>T
ENST00000639473.1:n.3065G>T
ENST00000640012.1:c.1413G>T
ENST00000640374.1:n.750G>T
ENST00000640403.1:c.4897G>T	ENSP00000492531.1:p.Glu1633Ter
ENST00000640779.1:c.2335G>T
ENST00000405460.6:c.7606G>T	ENSP00000384582.2:p.Glu2536Ter
ENST00000509621.1:c.303G>T
NM_032119.3:c.7606G>T	NP_115495.3:p.Glu2536Ter
NR_003149.1:n.7619G>T
XM_011543675.1:c.7603G>T	XP_011541977.1:p.Glu2535Ter
XM_011543676.1:c.7525G>T	XP_011541978.1:p.Glu2509Ter
XM_011543677.1:c.4909G>T	XP_011541979.1:p.Glu1637Ter
XM_011543678.1:c.7606G>T	XP_011541980.1:p.Glu2536Ter
XM_011543679.1:c.7606G>T	XP_011541981.1:p.Glu2536Ter
NM_032119.4:c.7606G>T MANE Select	NP_115495.3:p.Glu2536Ter
XM_017009963.2:c.7606G>T	XP_016865452.1:p.Glu2536Ter
XM_017009964.2:c.7603G>T	XP_016865453.1:p.Glu2535Ter
XM_017009965.1:c.7603G>T	XP_016865454.1:p.Glu2535Ter
XM_017009966.2:c.7525G>T	XP_016865455.1:p.Glu2509Ter
XM_017009967.1:c.7510G>T	XP_016865456.1:p.Glu2504Ter
XM_017009968.2:c.7606G>T	XP_016865457.1:p.Glu2536Ter
XM_017009969.2:c.7606G>T	XP_016865458.1:p.Glu2536Ter
XM_017009970.2:c.7606G>T	XP_016865459.1:p.Glu2536Ter
XM_017009971.2:c.7606G>T	XP_016865460.1:p.Glu2536Ter
XM_017009972.1:c.724G>T	XP_016865461.1:p.Glu242Ter
XM_017009973.1:c.724G>T	XP_016865462.1:p.Glu242Ter
XM_017009974.2:c.7606G>T	XP_016865463.1:p.Glu2536Ter
NR_003149.2:n.7622G>T