Canonical Allele Identifier: CA3341330

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90778538G>T , CM000667.2:g.90778538G>T	GRCh38
NC_000005.9:g.90074355G>T , CM000667.1:g.90074355G>T	GRCh37
NC_000005.8:g.90110111G>T	NCBI36
NG_007083.1:g.224739G>T
NG_007083.2:g.254195G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12778G>T MANE Select	NP_115495.3:p.Val4260Leu
ENST00000405460.9:c.12778G>T MANE Select	ENSP00000384582.2:p.Val4260Leu
NM_032119.3:c.12778G>T	NP_115495.3:p.Val4260Leu
NR_003149.1:n.12791G>T
NR_003149.2:n.12794G>T
ENST00000405460.6:c.12778G>T	ENSP00000384582.2:p.Val4260Leu
ENST00000425867.3:c.1732G>T	ENSP00000392618.3:p.Val578Leu
ENST00000639431.1:c.265+102329G>T	ENSP00000491057.1:n.265+102329G>T
ENST00000640464.1:n.3197G>T
ENST00000640729.1:n.1355G>T
XM_011543675.1:c.12775G>T	XP_011541977.1:p.Val4259Leu
XM_011543676.1:c.12697G>T	XP_011541978.1:p.Val4233Leu
XM_011543677.1:c.10081G>T	XP_011541979.1:p.Val3361Leu
XM_011543678.1:c.12778G>T	XP_011541980.1:p.Val4260Leu
XM_017009963.2:c.12799G>T	XP_016865452.1:p.Val4267Leu
XM_017009964.2:c.12796G>T	XP_016865453.1:p.Val4266Leu
XM_017009965.1:c.12796G>T	XP_016865454.1:p.Val4266Leu
XM_017009966.2:c.12718G>T	XP_016865455.1:p.Val4240Leu
XM_017009967.1:c.12703G>T	XP_016865456.1:p.Val4235Leu
XM_017009968.2:c.12799G>T	XP_016865457.1:p.Val4267Leu
XM_017009969.2:c.12799G>T	XP_016865458.1:p.Val4267Leu
XM_017009970.2:c.12799G>T	XP_016865459.1:p.Val4267Leu
XM_017009971.2:c.12799G>T	XP_016865460.1:p.Val4267Leu
XM_017009972.1:c.5917G>T	XP_016865461.1:p.Val1973Leu
XM_017009973.1:c.5896G>T	XP_016865462.1:p.Val1966Leu