Canonical Allele Identifier: CA121825185

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1608390
• ClinVar RCV Id: RCV002147404
• dbSNP Id: rs1053133146
• MyVariant Identifiers: chr5:g.89923117C>A (hg19) ; chr5:g.90627300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627300C>A , CM000667.2:g.90627300C>A	GRCh38
NC_000005.9:g.89923117C>A , CM000667.1:g.89923117C>A	GRCh37
NC_000005.8:g.89958873C>A	NCBI36
NG_007083.1:g.73501C>A
NG_007083.2:g.102957C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.762C>A MANE Select	ENSP00000384582.2:p.Ile254=
ENST00000640083.1:n.467C>A
ENST00000640109.1:n.858C>A
ENST00000640281.1:n.821C>A
ENST00000405460.6:c.762C>A	ENSP00000384582.2:p.Ile254=
NM_032119.3:c.762C>A	NP_115495.3:p.Ile254=
NR_003149.1:n.858C>A
XM_011543675.1:c.762C>A	XP_011541977.1:p.Ile254=
XM_011543676.1:c.762C>A	XP_011541978.1:p.Ile254=
XM_011543678.1:c.762C>A	XP_011541980.1:p.Ile254=
XM_011543679.1:c.762C>A	XP_011541981.1:p.Ile254=
NM_032119.4:c.762C>A MANE Select	NP_115495.3:p.Ile254=
XM_017009963.2:c.762C>A	XP_016865452.1:p.Ile254=
XM_017009964.2:c.762C>A	XP_016865453.1:p.Ile254=
XM_017009965.1:c.759C>A	XP_016865454.1:p.Ile253=
XM_017009966.2:c.762C>A	XP_016865455.1:p.Ile254=
XM_017009967.1:c.666C>A	XP_016865456.1:p.Ile222=
XM_017009968.2:c.762C>A	XP_016865457.1:p.Ile254=
XM_017009969.2:c.762C>A	XP_016865458.1:p.Ile254=
XM_017009970.2:c.762C>A	XP_016865459.1:p.Ile254=
XM_017009971.2:c.762C>A	XP_016865460.1:p.Ile254=
XM_017009974.2:c.762C>A	XP_016865463.1:p.Ile254=
NR_003149.2:n.861C>A