Canonical Allele Identifier: CA3341258

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90776534T>C , CM000667.2:g.90776534T>C	GRCh38
NC_000005.9:g.90072351T>C , CM000667.1:g.90072351T>C	GRCh37
NC_000005.8:g.90108107T>C	NCBI36
NG_007083.1:g.222735T>C
NG_007083.2:g.252191T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.12485T>C MANE Select	NP_115495.3:p.Ile4162Thr
ENST00000405460.9:c.12485T>C MANE Select	ENSP00000384582.2:p.Ile4162Thr
NM_032119.3:c.12485T>C	NP_115495.3:p.Ile4162Thr
NR_003149.1:n.12498T>C
NR_003149.2:n.12501T>C
ENST00000405460.6:c.12485T>C	ENSP00000384582.2:p.Ile4162Thr
ENST00000425867.3:c.1439T>C	ENSP00000392618.3:p.Ile480Thr
ENST00000639431.1:c.265+100325T>C	ENSP00000491057.1:n.265+100325T>C
ENST00000640464.1:n.2904T>C
ENST00000640729.1:n.1062T>C
XM_011543675.1:c.12482T>C	XP_011541977.1:p.Ile4161Thr
XM_011543676.1:c.12404T>C	XP_011541978.1:p.Ile4135Thr
XM_011543677.1:c.9788T>C	XP_011541979.1:p.Ile3263Thr
XM_011543678.1:c.12485T>C	XP_011541980.1:p.Ile4162Thr
XM_017009963.2:c.12506T>C	XP_016865452.1:p.Ile4169Thr
XM_017009964.2:c.12503T>C	XP_016865453.1:p.Ile4168Thr
XM_017009965.1:c.12503T>C	XP_016865454.1:p.Ile4168Thr
XM_017009966.2:c.12425T>C	XP_016865455.1:p.Ile4142Thr
XM_017009967.1:c.12410T>C	XP_016865456.1:p.Ile4137Thr
XM_017009968.2:c.12506T>C	XP_016865457.1:p.Ile4169Thr
XM_017009969.2:c.12506T>C	XP_016865458.1:p.Ile4169Thr
XM_017009970.2:c.12506T>C	XP_016865459.1:p.Ile4169Thr
XM_017009971.2:c.12506T>C	XP_016865460.1:p.Ile4169Thr
XM_017009972.1:c.5624T>C	XP_016865461.1:p.Ile1875Thr
XM_017009973.1:c.5603T>C	XP_016865462.1:p.Ile1868Thr