Canonical Allele Identifier: CA3338421

Gene: ADGRV1

Linked Data

• dbSNP Id: rs749139831
• ExAC: 5:89913644 C / A
• gnomAD v2: 5-89913644-C-A
• gnomAD v4: 5-90617827-C-A
• MyVariant Identifiers: chr5:g.89913644C>A (hg19) ; chr5:g.90617827C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617827C>A , CM000667.2:g.90617827C>A	GRCh38
NC_000005.9:g.89913644C>A , CM000667.1:g.89913644C>A	GRCh37
NC_000005.8:g.89949400C>A	NCBI36
NG_007083.1:g.64028C>A
NG_007083.2:g.93484C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.231C>A MANE Select	ENSP00000384582.2:p.Asp77Glu
ENST00000638316.1:n.441C>A
ENST00000638638.1:n.638C>A
ENST00000640109.1:n.327C>A
ENST00000640281.1:n.290C>A
ENST00000405460.6:c.231C>A	ENSP00000384582.2:p.Asp77Glu
ENST00000508842.5:c.243C>A	ENSP00000425936.1:p.Asp81Glu
NM_032119.3:c.231C>A	NP_115495.3:p.Asp77Glu
NR_003149.1:n.327C>A
XM_011543675.1:c.231C>A	XP_011541977.1:p.Asp77Glu
XM_011543676.1:c.231C>A	XP_011541978.1:p.Asp77Glu
XM_011543678.1:c.231C>A	XP_011541980.1:p.Asp77Glu
XM_011543679.1:c.231C>A	XP_011541981.1:p.Asp77Glu
NM_032119.4:c.231C>A MANE Select	NP_115495.3:p.Asp77Glu
XM_017009963.2:c.231C>A	XP_016865452.1:p.Asp77Glu
XM_017009964.2:c.231C>A	XP_016865453.1:p.Asp77Glu
XM_017009965.1:c.228C>A	XP_016865454.1:p.Asp76Glu
XM_017009966.2:c.231C>A	XP_016865455.1:p.Asp77Glu
XM_017009967.1:c.231C>A	XP_016865456.1:p.Asp77Glu
XM_017009968.2:c.231C>A	XP_016865457.1:p.Asp77Glu
XM_017009969.2:c.231C>A	XP_016865458.1:p.Asp77Glu
XM_017009970.2:c.231C>A	XP_016865459.1:p.Asp77Glu
XM_017009971.2:c.231C>A	XP_016865460.1:p.Asp77Glu
XM_017009974.2:c.231C>A	XP_016865463.1:p.Asp77Glu
NR_003149.2:n.330C>A