Canonical Allele Identifier: CA3339819

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90689891T>C , CM000667.2:g.90689891T>C	GRCh38
NC_000005.9:g.89985708T>C , CM000667.1:g.89985708T>C	GRCh37
NC_000005.8:g.90021464T>C	NCBI36
NG_007083.1:g.136092T>C
NG_007083.2:g.165548T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.6521T>C MANE Select	NP_115495.3:p.Val2174Ala
ENST00000405460.9:c.6521T>C MANE Select	ENSP00000384582.2:p.Val2174Ala
NM_032119.3:c.6521T>C	NP_115495.3:p.Val2174Ala
NR_003149.1:n.6617T>C
NR_003149.2:n.6620T>C
ENST00000405460.6:c.6521T>C	ENSP00000384582.2:p.Val2174Ala
ENST00000639431.1:c.265+13682T>C	ENSP00000491057.1:n.265+13682T>C
ENST00000639473.1:n.1980T>C
ENST00000640012.1:c.411T>C
ENST00000640403.1:c.3812T>C	ENSP00000492531.1:p.Val1271Ala
ENST00000640779.1:c.1333T>C
XM_011543675.1:c.6518T>C	XP_011541977.1:p.Val2173Ala
XM_011543676.1:c.6440T>C	XP_011541978.1:p.Val2147Ala
XM_011543677.1:c.3824T>C	XP_011541979.1:p.Val1275Ala
XM_011543678.1:c.6521T>C	XP_011541980.1:p.Val2174Ala
XM_011543679.1:c.6521T>C	XP_011541981.1:p.Val2174Ala
XM_017009963.2:c.6521T>C	XP_016865452.1:p.Val2174Ala
XM_017009964.2:c.6518T>C	XP_016865453.1:p.Val2173Ala
XM_017009965.1:c.6518T>C	XP_016865454.1:p.Val2173Ala
XM_017009966.2:c.6440T>C	XP_016865455.1:p.Val2147Ala
XM_017009967.1:c.6425T>C	XP_016865456.1:p.Val2142Ala
XM_017009968.2:c.6521T>C	XP_016865457.1:p.Val2174Ala
XM_017009969.2:c.6521T>C	XP_016865458.1:p.Val2174Ala
XM_017009970.2:c.6521T>C	XP_016865459.1:p.Val2174Ala
XM_017009971.2:c.6521T>C	XP_016865460.1:p.Val2174Ala
XM_017009972.1:c.-279T>C	XP_016865461.1:n.-279T>C
XM_017009973.1:c.-279T>C	XP_016865462.1:n.-279T>C
XM_017009974.2:c.6521T>C	XP_016865463.1:p.Val2174Ala