Canonical Allele Identifier: CA3340439

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712313G>C , CM000667.2:g.90712313G>C	GRCh38
NC_000005.9:g.90008130G>C , CM000667.1:g.90008130G>C	GRCh37
NC_000005.8:g.90043886G>C	NCBI36
NG_007083.1:g.158514G>C
NG_007083.2:g.187970G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9069G>C MANE Select	NP_115495.3:p.Arg3023Ser
ENST00000405460.9:c.9069G>C MANE Select	ENSP00000384582.2:p.Arg3023Ser
NM_032119.3:c.9069G>C	NP_115495.3:p.Arg3023Ser
NR_003149.1:n.9082G>C
NR_003149.2:n.9085G>C
ENST00000405460.6:c.9069G>C	ENSP00000384582.2:p.Arg3023Ser
ENST00000509621.1:c.1766G>C
ENST00000639431.1:c.265+36104G>C	ENSP00000491057.1:n.265+36104G>C
ENST00000639473.1:n.4528G>C
ENST00000640012.1:c.2876G>C
ENST00000640374.1:n.2213G>C
ENST00000640779.1:c.3798G>C
XM_011543675.1:c.9066G>C	XP_011541977.1:p.Arg3022Ser
XM_011543676.1:c.8988G>C	XP_011541978.1:p.Arg2996Ser
XM_011543677.1:c.6372G>C	XP_011541979.1:p.Arg2124Ser
XM_011543678.1:c.9069G>C	XP_011541980.1:p.Arg3023Ser
XM_011543679.1:c.9069G>C	XP_011541981.1:p.Arg3023Ser
XM_017009963.2:c.9090G>C	XP_016865452.1:p.Arg3030Ser
XM_017009964.2:c.9087G>C	XP_016865453.1:p.Arg3029Ser
XM_017009965.1:c.9087G>C	XP_016865454.1:p.Arg3029Ser
XM_017009966.2:c.9009G>C	XP_016865455.1:p.Arg3003Ser
XM_017009967.1:c.8994G>C	XP_016865456.1:p.Arg2998Ser
XM_017009968.2:c.9090G>C	XP_016865457.1:p.Arg3030Ser
XM_017009969.2:c.9090G>C	XP_016865458.1:p.Arg3030Ser
XM_017009970.2:c.9090G>C	XP_016865459.1:p.Arg3030Ser
XM_017009971.2:c.9090G>C	XP_016865460.1:p.Arg3030Ser
XM_017009972.1:c.2208G>C	XP_016865461.1:p.Arg736Ser
XM_017009973.1:c.2187G>C	XP_016865462.1:p.Arg729Ser
XM_017009974.2:c.9090G>C	XP_016865463.1:p.Arg3030Ser