Canonical Allele Identifier: CA3342593

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.91072508C>T , CM000667.2:g.91072508C>T	GRCh38
NC_000005.9:g.90368325C>T , CM000667.1:g.90368325C>T	GRCh37
NC_000005.8:g.90404081C>T	NCBI36
NG_007083.1:g.518709C>T
NG_007083.2:g.548165C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18214C>T MANE Select	NP_115495.3:p.Leu6072Phe
ENST00000405460.9:c.18214C>T MANE Select	ENSP00000384582.2:p.Leu6072Phe
NM_032119.3:c.18214C>T	NP_115495.3:p.Leu6072Phe
NR_003149.1:n.18227C>T
NR_003149.2:n.18230C>T
ENST00000405460.6:c.18214C>T	ENSP00000384582.2:p.Leu6072Phe
ENST00000425867.2:c.5197C>T	ENSP00000392618.2:p.Leu1733Phe
ENST00000425867.3:c.7168C>T	ENSP00000392618.3:p.Leu2390Phe
ENST00000638510.1:n.5481C>T
ENST00000638990.1:c.1426C>T
ENST00000639431.1:c.506C>T	ENSP00000491057.1:n.506C>T
ENST00000639707.1:c.298C>T	ENSP00000492328.1:p.Leu100Phe
ENST00000639821.1:c.298C>T	ENSP00000492216.1:p.Leu100Phe
ENST00000640369.1:c.298C>T	ENSP00000491401.1:p.Leu100Phe
ENST00000640407.1:c.4663C>T	ENSP00000491425.1:n.4663C>T
ENST00000640815.1:c.298C>T	ENSP00000491767.1:p.Leu100Phe
XM_011543675.1:c.18211C>T	XP_011541977.1:p.Leu6071Phe
XM_011543676.1:c.18133C>T	XP_011541978.1:p.Leu6045Phe
XM_011543677.1:c.15517C>T	XP_011541979.1:p.Leu5173Phe
XM_017009963.2:c.18235C>T	XP_016865452.1:p.Leu6079Phe
XM_017009964.2:c.18232C>T	XP_016865453.1:p.Leu6078Phe
XM_017009965.1:c.18232C>T	XP_016865454.1:p.Leu6078Phe
XM_017009966.2:c.18154C>T	XP_016865455.1:p.Leu6052Phe
XM_017009967.1:c.18139C>T	XP_016865456.1:p.Leu6047Phe
XM_017009968.2:c.18055C>T	XP_016865457.1:p.Leu6019Phe
XM_017009969.2:c.18235C>T	XP_016865458.1:p.Leu6079Phe
XM_017009972.1:c.11353C>T	XP_016865461.1:p.Leu3785Phe
XM_017009973.1:c.11332C>T	XP_016865462.1:p.Leu3778Phe