Canonical Allele Identifier: CA445467163

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1117288
• ClinVar RCV Id: RCV001445958
• dbSNP Id: rs768200716
• MyVariant Identifiers: chr5:g.89979951C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684134C>G , CM000667.2:g.90684134C>G	GRCh38
NC_000005.9:g.89979951C>G , CM000667.1:g.89979951C>G	GRCh37
NC_000005.8:g.90015707C>G	NCBI36
NG_007083.1:g.130335C>G
NG_007083.2:g.159791C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6213C>G MANE Select	ENSP00000384582.2:p.Ser2071=
ENST00000639431.1:c.265+7925C>G	ENSP00000491057.1:n.265+7925C>G
ENST00000639473.1:n.1672C>G
ENST00000640012.1:c.165-1646C>G
ENST00000640403.1:c.3504C>G	ENSP00000492531.1:p.Ser1168=
ENST00000640779.1:c.1025C>G
ENST00000405460.6:c.6213C>G	ENSP00000384582.2:p.Ser2071=
NM_032119.3:c.6213C>G	NP_115495.3:p.Ser2071=
NR_003149.1:n.6309C>G
XM_011543675.1:c.6210C>G	XP_011541977.1:p.Ser2070=
XM_011543676.1:c.6132C>G	XP_011541978.1:p.Ser2044=
XM_011543677.1:c.3516C>G	XP_011541979.1:p.Ser1172=
XM_011543678.1:c.6213C>G	XP_011541980.1:p.Ser2071=
XM_011543679.1:c.6213C>G	XP_011541981.1:p.Ser2071=
NM_032119.4:c.6213C>G MANE Select	NP_115495.3:p.Ser2071=
XM_017009963.2:c.6213C>G	XP_016865452.1:p.Ser2071=
XM_017009964.2:c.6210C>G	XP_016865453.1:p.Ser2070=
XM_017009965.1:c.6210C>G	XP_016865454.1:p.Ser2070=
XM_017009966.2:c.6132C>G	XP_016865455.1:p.Ser2044=
XM_017009967.1:c.6117C>G	XP_016865456.1:p.Ser2039=
XM_017009968.2:c.6213C>G	XP_016865457.1:p.Ser2071=
XM_017009969.2:c.6213C>G	XP_016865458.1:p.Ser2071=
XM_017009970.2:c.6213C>G	XP_016865459.1:p.Ser2071=
XM_017009971.2:c.6213C>G	XP_016865460.1:p.Ser2071=
XM_017009973.1:c.-587C>G	XP_016865462.1:n.-587C>G
XM_017009974.2:c.6213C>G	XP_016865463.1:p.Ser2071=
NR_003149.2:n.6312C>G