Canonical Allele Identifier: CA360377121

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763317-G-A
• COSMIC: COSM4932665
• MyVariant Identifiers: chr5:g.90059134G>A (hg19) ; chr5:g.90763317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763317G>A , CM000667.2:g.90763317G>A	GRCh38
NC_000005.9:g.90059134G>A , CM000667.1:g.90059134G>A	GRCh37
NC_000005.8:g.90094890G>A	NCBI36
NG_007083.1:g.209518G>A
NG_007083.2:g.238974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12133G>A MANE Select	ENSP00000384582.2:p.Glu4045Lys
ENST00000425867.3:c.1087G>A	ENSP00000392618.3:p.Glu363Lys
ENST00000639431.1:c.265+87108G>A	ENSP00000491057.1:n.265+87108G>A
ENST00000640464.1:n.2552G>A
ENST00000640729.1:n.710G>A
ENST00000405460.6:c.12133G>A	ENSP00000384582.2:p.Glu4045Lys
NM_032119.3:c.12133G>A	NP_115495.3:p.Glu4045Lys
NR_003149.1:n.12146G>A
XM_011543675.1:c.12130G>A	XP_011541977.1:p.Glu4044Lys
XM_011543676.1:c.12052G>A	XP_011541978.1:p.Glu4018Lys
XM_011543677.1:c.9436G>A	XP_011541979.1:p.Glu3146Lys
XM_011543678.1:c.12133G>A	XP_011541980.1:p.Glu4045Lys
NM_032119.4:c.12133G>A MANE Select	NP_115495.3:p.Glu4045Lys
XM_017009963.2:c.12154G>A	XP_016865452.1:p.Glu4052Lys
XM_017009964.2:c.12151G>A	XP_016865453.1:p.Glu4051Lys
XM_017009965.1:c.12151G>A	XP_016865454.1:p.Glu4051Lys
XM_017009966.2:c.12073G>A	XP_016865455.1:p.Glu4025Lys
XM_017009967.1:c.12058G>A	XP_016865456.1:p.Glu4020Lys
XM_017009968.2:c.12154G>A	XP_016865457.1:p.Glu4052Lys
XM_017009969.2:c.12154G>A	XP_016865458.1:p.Glu4052Lys
XM_017009970.2:c.12154G>A	XP_016865459.1:p.Glu4052Lys
XM_017009971.2:c.12154G>A	XP_016865460.1:p.Glu4052Lys
XM_017009972.1:c.5272G>A	XP_016865461.1:p.Glu1758Lys
XM_017009973.1:c.5251G>A	XP_016865462.1:p.Glu1751Lys
NR_003149.2:n.12149G>A