Canonical Allele Identifier: CA3342556

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90985464T>C , CM000667.2:g.90985464T>C	GRCh38
NC_000005.9:g.90281281T>C , CM000667.1:g.90281281T>C	GRCh37
NC_000005.8:g.90317037T>C	NCBI36
NG_007083.1:g.431665T>C
NG_007083.2:g.461121T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18094T>C MANE Select	NP_115495.3:p.Leu6032=
ENST00000405460.9:c.18094T>C MANE Select	ENSP00000384582.2:p.Leu6032=
NM_032119.3:c.18094T>C	NP_115495.3:p.Leu6032=
NR_003149.1:n.18107T>C
NR_003149.2:n.18110T>C
ENST00000405460.6:c.18094T>C	ENSP00000384582.2:p.Leu6032=
ENST00000425867.2:c.5077T>C	ENSP00000392618.2:p.Leu1693=
ENST00000425867.3:c.7048T>C	ENSP00000392618.3:p.Leu2350=
ENST00000638510.1:n.5361T>C
ENST00000638990.1:c.1306T>C
ENST00000639431.1:c.386T>C	ENSP00000491057.1:n.386T>C
ENST00000639707.1:c.178T>C	ENSP00000492328.1:p.Leu60=
ENST00000639821.1:c.178T>C	ENSP00000492216.1:p.Leu60=
ENST00000640369.1:c.178T>C	ENSP00000491401.1:p.Leu60=
ENST00000640407.1:c.4543T>C	ENSP00000491425.1:n.4543T>C
ENST00000640815.1:c.178T>C	ENSP00000491767.1:p.Leu60=
XM_011543675.1:c.18091T>C	XP_011541977.1:p.Leu6031=
XM_011543676.1:c.18013T>C	XP_011541978.1:p.Leu6005=
XM_011543677.1:c.15397T>C	XP_011541979.1:p.Leu5133=
XM_017009963.2:c.18115T>C	XP_016865452.1:p.Leu6039=
XM_017009964.2:c.18112T>C	XP_016865453.1:p.Leu6038=
XM_017009965.1:c.18112T>C	XP_016865454.1:p.Leu6038=
XM_017009966.2:c.18034T>C	XP_016865455.1:p.Leu6012=
XM_017009967.1:c.18019T>C	XP_016865456.1:p.Leu6007=
XM_017009968.2:c.17935T>C	XP_016865457.1:p.Leu5979=
XM_017009969.2:c.18115T>C	XP_016865458.1:p.Leu6039=
XM_017009972.1:c.11233T>C	XP_016865461.1:p.Leu3745=
XM_017009973.1:c.11212T>C	XP_016865462.1:p.Leu3738=