Canonical Allele Identifier: CA3342727

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.91153312C>T , CM000667.2:g.91153312C>T	GRCh38
NC_000005.9:g.90449129C>T , CM000667.1:g.90449129C>T	GRCh37
NC_000005.8:g.90484885C>T	NCBI36
NG_007083.1:g.599513C>T
NG_007083.2:g.628969C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18716C>T MANE Select	NP_115495.3:p.Pro6239Leu
ENST00000405460.9:c.18716C>T MANE Select	ENSP00000384582.2:p.Pro6239Leu
NM_032119.3:c.18716C>T	NP_115495.3:p.Pro6239Leu
NR_003149.1:n.18729C>T
NR_003149.2:n.18732C>T
ENST00000405460.6:c.18716C>T	ENSP00000384582.2:p.Pro6239Leu
ENST00000425867.2:c.5699C>T	ENSP00000392618.2:p.Pro1900Leu
ENST00000425867.3:c.7670C>T	ENSP00000392618.3:p.Pro2557Leu
ENST00000638510.1:n.5983C>T
ENST00000638990.1:c.1928C>T
ENST00000639212.1:n.636C>T
ENST00000639530.1:n.584C>T
ENST00000639821.1:c.517-10470C>T	ENSP00000492216.1:n.517-10470C>T
ENST00000640256.1:n.392C>T
ENST00000640407.1:c.5165C>T	ENSP00000491425.1:n.5165C>T
ENST00000640815.1:c.800C>T	ENSP00000491767.1:p.Pro267Leu
XM_011543675.1:c.18713C>T	XP_011541977.1:p.Pro6238Leu
XM_011543676.1:c.18635C>T	XP_011541978.1:p.Pro6212Leu
XM_011543677.1:c.16019C>T	XP_011541979.1:p.Pro5340Leu
XM_017009963.2:c.18737C>T	XP_016865452.1:p.Pro6246Leu
XM_017009964.2:c.18734C>T	XP_016865453.1:p.Pro6245Leu
XM_017009965.1:c.18734C>T	XP_016865454.1:p.Pro6245Leu
XM_017009966.2:c.18656C>T	XP_016865455.1:p.Pro6219Leu
XM_017009967.1:c.18641C>T	XP_016865456.1:p.Pro6214Leu
XM_017009968.2:c.18557C>T	XP_016865457.1:p.Pro6186Leu
XM_017009969.2:c.18454-10470C>T	XP_016865458.1:n.18454-10470C>T
XM_017009972.1:c.11855C>T	XP_016865461.1:p.Pro3952Leu
XM_017009973.1:c.11834C>T	XP_016865462.1:p.Pro3945Leu
XR_001742795.1:n.225-1124G>A
XR_001742796.1:n.225-17318G>A