Canonical Allele Identifier: CA360366965

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90627478-G-C
• MyVariant Identifiers: chr5:g.89923295G>C (hg19) ; chr5:g.90627478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627478G>C , CM000667.2:g.90627478G>C	GRCh38
NC_000005.9:g.89923295G>C , CM000667.1:g.89923295G>C	GRCh37
NC_000005.8:g.89959051G>C	NCBI36
NG_007083.1:g.73679G>C
NG_007083.2:g.103135G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.940G>C MANE Select	ENSP00000384582.2:p.Ala314Pro
ENST00000640083.1:n.645G>C
ENST00000640109.1:n.1036G>C
ENST00000640281.1:n.999G>C
ENST00000405460.6:c.940G>C	ENSP00000384582.2:p.Ala314Pro
NM_032119.3:c.940G>C	NP_115495.3:p.Ala314Pro
NR_003149.1:n.1036G>C
XM_011543675.1:c.940G>C	XP_011541977.1:p.Ala314Pro
XM_011543676.1:c.940G>C	XP_011541978.1:p.Ala314Pro
XM_011543678.1:c.940G>C	XP_011541980.1:p.Ala314Pro
XM_011543679.1:c.940G>C	XP_011541981.1:p.Ala314Pro
NM_032119.4:c.940G>C MANE Select	NP_115495.3:p.Ala314Pro
XM_017009963.2:c.940G>C	XP_016865452.1:p.Ala314Pro
XM_017009964.2:c.940G>C	XP_016865453.1:p.Ala314Pro
XM_017009965.1:c.937G>C	XP_016865454.1:p.Ala313Pro
XM_017009966.2:c.940G>C	XP_016865455.1:p.Ala314Pro
XM_017009967.1:c.844G>C	XP_016865456.1:p.Ala282Pro
XM_017009968.2:c.940G>C	XP_016865457.1:p.Ala314Pro
XM_017009969.2:c.940G>C	XP_016865458.1:p.Ala314Pro
XM_017009970.2:c.940G>C	XP_016865459.1:p.Ala314Pro
XM_017009971.2:c.940G>C	XP_016865460.1:p.Ala314Pro
XM_017009974.2:c.940G>C	XP_016865463.1:p.Ala314Pro
NR_003149.2:n.1039G>C