Canonical Allele Identifier: CA360409128

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1199427081
• gnomAD v2: 5-90041493-G-A
• MyVariant Identifiers: chr5:g.90041493G>A (hg19) ; chr5:g.90745676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745676G>A , CM000667.2:g.90745676G>A	GRCh38
NC_000005.9:g.90041493G>A , CM000667.1:g.90041493G>A	GRCh37
NC_000005.8:g.90077249G>A	NCBI36
NG_007083.1:g.191877G>A
NG_007083.2:g.221333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10855G>A MANE Select	ENSP00000384582.2:p.Glu3619Lys
ENST00000639431.1:c.265+69467G>A	ENSP00000491057.1:n.265+69467G>A
ENST00000640374.1:n.3999G>A
ENST00000640464.1:n.1274G>A
ENST00000405460.6:c.10855G>A	ENSP00000384582.2:p.Glu3619Lys
ENST00000509621.1:c.3552G>A
NM_032119.3:c.10855G>A	NP_115495.3:p.Glu3619Lys
NR_003149.1:n.10868G>A
XM_011543675.1:c.10852G>A	XP_011541977.1:p.Glu3618Lys
XM_011543676.1:c.10774G>A	XP_011541978.1:p.Glu3592Lys
XM_011543677.1:c.8158G>A	XP_011541979.1:p.Glu2720Lys
XM_011543678.1:c.10855G>A	XP_011541980.1:p.Glu3619Lys
XM_011543679.1:c.*77G>A	XP_011541981.1:n.*77G>A
NM_032119.4:c.10855G>A MANE Select	NP_115495.3:p.Glu3619Lys
XM_017009963.2:c.10876G>A	XP_016865452.1:p.Glu3626Lys
XM_017009964.2:c.10873G>A	XP_016865453.1:p.Glu3625Lys
XM_017009965.1:c.10873G>A	XP_016865454.1:p.Glu3625Lys
XM_017009966.2:c.10795G>A	XP_016865455.1:p.Glu3599Lys
XM_017009967.1:c.10780G>A	XP_016865456.1:p.Glu3594Lys
XM_017009968.2:c.10876G>A	XP_016865457.1:p.Glu3626Lys
XM_017009969.2:c.10876G>A	XP_016865458.1:p.Glu3626Lys
XM_017009970.2:c.10876G>A	XP_016865459.1:p.Glu3626Lys
XM_017009971.2:c.10876G>A	XP_016865460.1:p.Glu3626Lys
XM_017009972.1:c.3994G>A	XP_016865461.1:p.Glu1332Lys
XM_017009973.1:c.3973G>A	XP_016865462.1:p.Glu1325Lys
XM_017009974.2:c.*77G>A	XP_016865463.1:n.*77G>A
NR_003149.2:n.10871G>A