Canonical Allele Identifier: CA360378397

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059233G>A (hg19) ; chr5:g.90763416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763416G>A , CM000667.2:g.90763416G>A	GRCh38
NC_000005.9:g.90059233G>A , CM000667.1:g.90059233G>A	GRCh37
NC_000005.8:g.90094989G>A	NCBI36
NG_007083.1:g.209617G>A
NG_007083.2:g.239073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12232G>A MANE Select	ENSP00000384582.2:p.Glu4078Lys
ENST00000425867.3:c.1186G>A	ENSP00000392618.3:p.Glu396Lys
ENST00000639431.1:c.265+87207G>A	ENSP00000491057.1:n.265+87207G>A
ENST00000640464.1:n.2651G>A
ENST00000640729.1:n.809G>A
ENST00000405460.6:c.12232G>A	ENSP00000384582.2:p.Glu4078Lys
NM_032119.3:c.12232G>A	NP_115495.3:p.Glu4078Lys
NR_003149.1:n.12245G>A
XM_011543675.1:c.12229G>A	XP_011541977.1:p.Glu4077Lys
XM_011543676.1:c.12151G>A	XP_011541978.1:p.Glu4051Lys
XM_011543677.1:c.9535G>A	XP_011541979.1:p.Glu3179Lys
XM_011543678.1:c.12232G>A	XP_011541980.1:p.Glu4078Lys
NM_032119.4:c.12232G>A MANE Select	NP_115495.3:p.Glu4078Lys
XM_017009963.2:c.12253G>A	XP_016865452.1:p.Glu4085Lys
XM_017009964.2:c.12250G>A	XP_016865453.1:p.Glu4084Lys
XM_017009965.1:c.12250G>A	XP_016865454.1:p.Glu4084Lys
XM_017009966.2:c.12172G>A	XP_016865455.1:p.Glu4058Lys
XM_017009967.1:c.12157G>A	XP_016865456.1:p.Glu4053Lys
XM_017009968.2:c.12253G>A	XP_016865457.1:p.Glu4085Lys
XM_017009969.2:c.12253G>A	XP_016865458.1:p.Glu4085Lys
XM_017009970.2:c.12253G>A	XP_016865459.1:p.Glu4085Lys
XM_017009971.2:c.12253G>A	XP_016865460.1:p.Glu4085Lys
XM_017009972.1:c.5371G>A	XP_016865461.1:p.Glu1791Lys
XM_017009973.1:c.5350G>A	XP_016865462.1:p.Glu1784Lys
NR_003149.2:n.12248G>A