Canonical Allele Identifier: CA360377317

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763337-C-A
• MyVariant Identifiers: chr5:g.90059154C>A (hg19) ; chr5:g.90763337C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763337C>A , CM000667.2:g.90763337C>A	GRCh38
NC_000005.9:g.90059154C>A , CM000667.1:g.90059154C>A	GRCh37
NC_000005.8:g.90094910C>A	NCBI36
NG_007083.1:g.209538C>A
NG_007083.2:g.238994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12153C>A MANE Select	ENSP00000384582.2:p.Asp4051Glu
ENST00000425867.3:c.1107C>A	ENSP00000392618.3:p.Asp369Glu
ENST00000639431.1:c.265+87128C>A	ENSP00000491057.1:n.265+87128C>A
ENST00000640464.1:n.2572C>A
ENST00000640729.1:n.730C>A
ENST00000405460.6:c.12153C>A	ENSP00000384582.2:p.Asp4051Glu
NM_032119.3:c.12153C>A	NP_115495.3:p.Asp4051Glu
NR_003149.1:n.12166C>A
XM_011543675.1:c.12150C>A	XP_011541977.1:p.Asp4050Glu
XM_011543676.1:c.12072C>A	XP_011541978.1:p.Asp4024Glu
XM_011543677.1:c.9456C>A	XP_011541979.1:p.Asp3152Glu
XM_011543678.1:c.12153C>A	XP_011541980.1:p.Asp4051Glu
NM_032119.4:c.12153C>A MANE Select	NP_115495.3:p.Asp4051Glu
XM_017009963.2:c.12174C>A	XP_016865452.1:p.Asp4058Glu
XM_017009964.2:c.12171C>A	XP_016865453.1:p.Asp4057Glu
XM_017009965.1:c.12171C>A	XP_016865454.1:p.Asp4057Glu
XM_017009966.2:c.12093C>A	XP_016865455.1:p.Asp4031Glu
XM_017009967.1:c.12078C>A	XP_016865456.1:p.Asp4026Glu
XM_017009968.2:c.12174C>A	XP_016865457.1:p.Asp4058Glu
XM_017009969.2:c.12174C>A	XP_016865458.1:p.Asp4058Glu
XM_017009970.2:c.12174C>A	XP_016865459.1:p.Asp4058Glu
XM_017009971.2:c.12174C>A	XP_016865460.1:p.Asp4058Glu
XM_017009972.1:c.5292C>A	XP_016865461.1:p.Asp1764Glu
XM_017009973.1:c.5271C>A	XP_016865462.1:p.Asp1757Glu
NR_003149.2:n.12169C>A