Canonical Allele Identifier: CA3342531

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90985357G>T , CM000667.2:g.90985357G>T	GRCh38
NC_000005.9:g.90281174G>T , CM000667.1:g.90281174G>T	GRCh37
NC_000005.8:g.90316930G>T	NCBI36
NG_007083.1:g.431558G>T
NG_007083.2:g.461014G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.17987G>T MANE Select	NP_115495.3:p.Trp5996Leu
ENST00000405460.9:c.17987G>T MANE Select	ENSP00000384582.2:p.Trp5996Leu
NM_032119.3:c.17987G>T	NP_115495.3:p.Trp5996Leu
NR_003149.1:n.18000G>T
NR_003149.2:n.18003G>T
ENST00000405460.6:c.17987G>T	ENSP00000384582.2:p.Trp5996Leu
ENST00000425867.2:c.4970G>T	ENSP00000392618.2:p.Trp1657Leu
ENST00000425867.3:c.6941G>T	ENSP00000392618.3:p.Trp2314Leu
ENST00000638510.1:n.5254G>T
ENST00000638990.1:c.1199G>T
ENST00000639431.1:c.279G>T	ENSP00000491057.1:p.Leu93=
ENST00000639707.1:c.71G>T	ENSP00000492328.1:p.Trp24Leu
ENST00000639821.1:c.71G>T	ENSP00000492216.1:p.Trp24Leu
ENST00000640369.1:c.71G>T	ENSP00000491401.1:p.Trp24Leu
ENST00000640407.1:c.4436G>T	ENSP00000491425.1:n.4436G>T
ENST00000640815.1:c.71G>T	ENSP00000491767.1:p.Trp24Leu
XM_011543675.1:c.17984G>T	XP_011541977.1:p.Trp5995Leu
XM_011543676.1:c.17906G>T	XP_011541978.1:p.Trp5969Leu
XM_011543677.1:c.15290G>T	XP_011541979.1:p.Trp5097Leu
XM_017009963.2:c.18008G>T	XP_016865452.1:p.Trp6003Leu
XM_017009964.2:c.18005G>T	XP_016865453.1:p.Trp6002Leu
XM_017009965.1:c.18005G>T	XP_016865454.1:p.Trp6002Leu
XM_017009966.2:c.17927G>T	XP_016865455.1:p.Trp5976Leu
XM_017009967.1:c.17912G>T	XP_016865456.1:p.Trp5971Leu
XM_017009968.2:c.17828G>T	XP_016865457.1:p.Trp5943Leu
XM_017009969.2:c.18008G>T	XP_016865458.1:p.Trp6003Leu
XM_017009972.1:c.11126G>T	XP_016865461.1:p.Trp3709Leu
XM_017009973.1:c.11105G>T	XP_016865462.1:p.Trp3702Leu