Canonical Allele Identifier: CA360365616

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1359143
• ClinVar RCV Id: RCV001864254
• dbSNP Id: rs2149376018
• MyVariant Identifiers: chr5:g.89923088A>G (hg19) ; chr5:g.90627271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627271A>G , CM000667.2:g.90627271A>G	GRCh38
NC_000005.9:g.89923088A>G , CM000667.1:g.89923088A>G	GRCh37
NC_000005.8:g.89958844A>G	NCBI36
NG_007083.1:g.73472A>G
NG_007083.2:g.102928A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.733A>G MANE Select	ENSP00000384582.2:p.Ile245Val
ENST00000640083.1:n.438A>G
ENST00000640109.1:n.829A>G
ENST00000640281.1:n.792A>G
ENST00000405460.6:c.733A>G	ENSP00000384582.2:p.Ile245Val
NM_032119.3:c.733A>G	NP_115495.3:p.Ile245Val
NR_003149.1:n.829A>G
XM_011543675.1:c.733A>G	XP_011541977.1:p.Ile245Val
XM_011543676.1:c.733A>G	XP_011541978.1:p.Ile245Val
XM_011543678.1:c.733A>G	XP_011541980.1:p.Ile245Val
XM_011543679.1:c.733A>G	XP_011541981.1:p.Ile245Val
NM_032119.4:c.733A>G MANE Select	NP_115495.3:p.Ile245Val
XM_017009963.2:c.733A>G	XP_016865452.1:p.Ile245Val
XM_017009964.2:c.733A>G	XP_016865453.1:p.Ile245Val
XM_017009965.1:c.730A>G	XP_016865454.1:p.Ile244Val
XM_017009966.2:c.733A>G	XP_016865455.1:p.Ile245Val
XM_017009967.1:c.637A>G	XP_016865456.1:p.Ile213Val
XM_017009968.2:c.733A>G	XP_016865457.1:p.Ile245Val
XM_017009969.2:c.733A>G	XP_016865458.1:p.Ile245Val
XM_017009970.2:c.733A>G	XP_016865459.1:p.Ile245Val
XM_017009971.2:c.733A>G	XP_016865460.1:p.Ile245Val
XM_017009974.2:c.733A>G	XP_016865463.1:p.Ile245Val
NR_003149.2:n.832A>G