Canonical Allele Identifier: CA3339905

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90691028C>T , CM000667.2:g.90691028C>T	GRCh38
NC_000005.9:g.89986845C>T , CM000667.1:g.89986845C>T	GRCh37
NC_000005.8:g.90022601C>T	NCBI36
NG_007083.1:g.137229C>T
NG_007083.2:g.166685C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.6938C>T MANE Select	NP_115495.3:p.Pro2313Leu
ENST00000405460.9:c.6938C>T MANE Select	ENSP00000384582.2:p.Pro2313Leu
NM_032119.3:c.6938C>T	NP_115495.3:p.Pro2313Leu
NR_003149.1:n.6964+70C>T
NR_003149.2:n.6967+70C>T
ENST00000405460.6:c.6938C>T	ENSP00000384582.2:p.Pro2313Leu
ENST00000639431.1:c.265+14819C>T	ENSP00000491057.1:n.265+14819C>T
ENST00000639473.1:n.2397C>T
ENST00000640012.1:c.758+70C>T
ENST00000640374.1:n.82C>T
ENST00000640403.1:c.4229C>T	ENSP00000492531.1:p.Pro1410Leu
ENST00000640779.1:c.1680+70C>T
XM_011543675.1:c.6935C>T	XP_011541977.1:p.Pro2312Leu
XM_011543676.1:c.6857C>T	XP_011541978.1:p.Pro2286Leu
XM_011543677.1:c.4241C>T	XP_011541979.1:p.Pro1414Leu
XM_011543678.1:c.6938C>T	XP_011541980.1:p.Pro2313Leu
XM_011543679.1:c.6938C>T	XP_011541981.1:p.Pro2313Leu
XM_017009963.2:c.6938C>T	XP_016865452.1:p.Pro2313Leu
XM_017009964.2:c.6935C>T	XP_016865453.1:p.Pro2312Leu
XM_017009965.1:c.6935C>T	XP_016865454.1:p.Pro2312Leu
XM_017009966.2:c.6857C>T	XP_016865455.1:p.Pro2286Leu
XM_017009967.1:c.6842C>T	XP_016865456.1:p.Pro2281Leu
XM_017009968.2:c.6938C>T	XP_016865457.1:p.Pro2313Leu
XM_017009969.2:c.6938C>T	XP_016865458.1:p.Pro2313Leu
XM_017009970.2:c.6938C>T	XP_016865459.1:p.Pro2313Leu
XM_017009971.2:c.6938C>T	XP_016865460.1:p.Pro2313Leu
XM_017009972.1:c.69+70C>T	XP_016865461.1:n.69+70C>T
XM_017009973.1:c.69+70C>T	XP_016865462.1:n.69+70C>T
XM_017009974.2:c.6938C>T	XP_016865463.1:p.Pro2313Leu