Canonical Allele Identifier: CA360366820

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1240910737
• gnomAD v2: 5-89923274-G-A
• MyVariant Identifiers: chr5:g.89923274G>A (hg19) ; chr5:g.90627457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627457G>A , CM000667.2:g.90627457G>A	GRCh38
NC_000005.9:g.89923274G>A , CM000667.1:g.89923274G>A	GRCh37
NC_000005.8:g.89959030G>A	NCBI36
NG_007083.1:g.73658G>A
NG_007083.2:g.103114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.919G>A MANE Select	ENSP00000384582.2:p.Val307Ile
ENST00000640083.1:n.624G>A
ENST00000640109.1:n.1015G>A
ENST00000640281.1:n.978G>A
ENST00000405460.6:c.919G>A	ENSP00000384582.2:p.Val307Ile
NM_032119.3:c.919G>A	NP_115495.3:p.Val307Ile
NR_003149.1:n.1015G>A
XM_011543675.1:c.919G>A	XP_011541977.1:p.Val307Ile
XM_011543676.1:c.919G>A	XP_011541978.1:p.Val307Ile
XM_011543678.1:c.919G>A	XP_011541980.1:p.Val307Ile
XM_011543679.1:c.919G>A	XP_011541981.1:p.Val307Ile
NM_032119.4:c.919G>A MANE Select	NP_115495.3:p.Val307Ile
XM_017009963.2:c.919G>A	XP_016865452.1:p.Val307Ile
XM_017009964.2:c.919G>A	XP_016865453.1:p.Val307Ile
XM_017009965.1:c.916G>A	XP_016865454.1:p.Val306Ile
XM_017009966.2:c.919G>A	XP_016865455.1:p.Val307Ile
XM_017009967.1:c.823G>A	XP_016865456.1:p.Val275Ile
XM_017009968.2:c.919G>A	XP_016865457.1:p.Val307Ile
XM_017009969.2:c.919G>A	XP_016865458.1:p.Val307Ile
XM_017009970.2:c.919G>A	XP_016865459.1:p.Val307Ile
XM_017009971.2:c.919G>A	XP_016865460.1:p.Val307Ile
XM_017009974.2:c.919G>A	XP_016865463.1:p.Val307Ile
NR_003149.2:n.1018G>A