Canonical Allele Identifier: CA3341217

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90774235T>G , CM000667.2:g.90774235T>G	GRCh38
NC_000005.9:g.90070052T>G , CM000667.1:g.90070052T>G	GRCh37
NC_000005.8:g.90105808T>G	NCBI36
NG_007083.1:g.220436T>G
NG_007083.2:g.249892T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12335T>G MANE Select	NP_115495.3:p.Leu4112Trp
ENST00000405460.9:c.12335T>G MANE Select	ENSP00000384582.2:p.Leu4112Trp
NM_032119.3:c.12335T>G	NP_115495.3:p.Leu4112Trp
NR_003149.1:n.12348T>G
NR_003149.2:n.12351T>G
ENST00000405460.6:c.12335T>G	ENSP00000384582.2:p.Leu4112Trp
ENST00000425867.3:c.1289T>G	ENSP00000392618.3:p.Leu430Trp
ENST00000639431.1:c.265+98026T>G	ENSP00000491057.1:n.265+98026T>G
ENST00000640464.1:n.2754T>G
ENST00000640729.1:n.912T>G
XM_011543675.1:c.12332T>G	XP_011541977.1:p.Leu4111Trp
XM_011543676.1:c.12254T>G	XP_011541978.1:p.Leu4085Trp
XM_011543677.1:c.9638T>G	XP_011541979.1:p.Leu3213Trp
XM_011543678.1:c.12335T>G	XP_011541980.1:p.Leu4112Trp
XM_017009963.2:c.12356T>G	XP_016865452.1:p.Leu4119Trp
XM_017009964.2:c.12353T>G	XP_016865453.1:p.Leu4118Trp
XM_017009965.1:c.12353T>G	XP_016865454.1:p.Leu4118Trp
XM_017009966.2:c.12275T>G	XP_016865455.1:p.Leu4092Trp
XM_017009967.1:c.12260T>G	XP_016865456.1:p.Leu4087Trp
XM_017009968.2:c.12356T>G	XP_016865457.1:p.Leu4119Trp
XM_017009969.2:c.12356T>G	XP_016865458.1:p.Leu4119Trp
XM_017009970.2:c.12356T>G	XP_016865459.1:p.Leu4119Trp
XM_017009971.2:c.12356T>G	XP_016865460.1:p.Leu4119Trp
XM_017009972.1:c.5474T>G	XP_016865461.1:p.Leu1825Trp
XM_017009973.1:c.5453T>G	XP_016865462.1:p.Leu1818Trp