Canonical Allele Identifier: CA445406402

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1620108
• ClinVar RCV Id: RCV002098936
• dbSNP Id: rs2150014916
• gnomAD v4: 5-90763334-T-C
• MyVariant Identifiers: chr5:g.90059151T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763334T>C , CM000667.2:g.90763334T>C	GRCh38
NC_000005.9:g.90059151T>C , CM000667.1:g.90059151T>C	GRCh37
NC_000005.8:g.90094907T>C	NCBI36
NG_007083.1:g.209535T>C
NG_007083.2:g.238991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12150T>C MANE Select	ENSP00000384582.2:p.Asp4050=
ENST00000425867.3:c.1104T>C	ENSP00000392618.3:p.Asp368=
ENST00000639431.1:c.265+87125T>C	ENSP00000491057.1:n.265+87125T>C
ENST00000640464.1:n.2569T>C
ENST00000640729.1:n.727T>C
ENST00000405460.6:c.12150T>C	ENSP00000384582.2:p.Asp4050=
NM_032119.3:c.12150T>C	NP_115495.3:p.Asp4050=
NR_003149.1:n.12163T>C
XM_011543675.1:c.12147T>C	XP_011541977.1:p.Asp4049=
XM_011543676.1:c.12069T>C	XP_011541978.1:p.Asp4023=
XM_011543677.1:c.9453T>C	XP_011541979.1:p.Asp3151=
XM_011543678.1:c.12150T>C	XP_011541980.1:p.Asp4050=
NM_032119.4:c.12150T>C MANE Select	NP_115495.3:p.Asp4050=
XM_017009963.2:c.12171T>C	XP_016865452.1:p.Asp4057=
XM_017009964.2:c.12168T>C	XP_016865453.1:p.Asp4056=
XM_017009965.1:c.12168T>C	XP_016865454.1:p.Asp4056=
XM_017009966.2:c.12090T>C	XP_016865455.1:p.Asp4030=
XM_017009967.1:c.12075T>C	XP_016865456.1:p.Asp4025=
XM_017009968.2:c.12171T>C	XP_016865457.1:p.Asp4057=
XM_017009969.2:c.12171T>C	XP_016865458.1:p.Asp4057=
XM_017009970.2:c.12171T>C	XP_016865459.1:p.Asp4057=
XM_017009971.2:c.12171T>C	XP_016865460.1:p.Asp4057=
XM_017009972.1:c.5289T>C	XP_016865461.1:p.Asp1763=
XM_017009973.1:c.5268T>C	XP_016865462.1:p.Asp1756=
NR_003149.2:n.12166T>C