Canonical Allele Identifier: CA445436567

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1763792459
• gnomAD v4: 5-90823506-G-C
• MyVariant Identifiers: chr5:g.90119323G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823506G>C , CM000667.2:g.90823506G>C	GRCh38
NC_000005.9:g.90119323G>C , CM000667.1:g.90119323G>C	GRCh37
NC_000005.8:g.90155079G>C	NCBI36
NG_007083.1:g.269707G>C
NG_007083.2:g.299163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16278G>C MANE Select	ENSP00000384582.2:p.Leu5426=
ENST00000425867.3:c.5232G>C	ENSP00000392618.3:p.Leu1744=
ENST00000638510.1:n.3545G>C
ENST00000639431.1:c.265+147297G>C	ENSP00000491057.1:n.265+147297G>C
ENST00000640061.1:n.128+1324G>C
ENST00000640407.1:c.2688G>C	ENSP00000491425.1:p.Leu896=
ENST00000405460.6:c.16278G>C	ENSP00000384582.2:p.Leu5426=
ENST00000425867.2:c.3261G>C	ENSP00000392618.2:p.Leu1087=
NM_032119.3:c.16278G>C	NP_115495.3:p.Leu5426=
NR_003149.1:n.16291G>C
XM_011543675.1:c.16275G>C	XP_011541977.1:p.Leu5425=
XM_011543676.1:c.16197G>C	XP_011541978.1:p.Leu5399=
XM_011543677.1:c.13581G>C	XP_011541979.1:p.Leu4527=
NM_032119.4:c.16278G>C MANE Select	NP_115495.3:p.Leu5426=
XM_017009963.2:c.16299G>C	XP_016865452.1:p.Leu5433=
XM_017009964.2:c.16296G>C	XP_016865453.1:p.Leu5432=
XM_017009965.1:c.16296G>C	XP_016865454.1:p.Leu5432=
XM_017009966.2:c.16218G>C	XP_016865455.1:p.Leu5406=
XM_017009967.1:c.16203G>C	XP_016865456.1:p.Leu5401=
XM_017009968.2:c.16119G>C	XP_016865457.1:p.Leu5373=
XM_017009969.2:c.16299G>C	XP_016865458.1:p.Leu5433=
XM_017009972.1:c.9417G>C	XP_016865461.1:p.Leu3139=
XM_017009973.1:c.9396G>C	XP_016865462.1:p.Leu3132=
NR_003149.2:n.16294G>C