Canonical Allele Identifier: CA360399393

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90720073A>C , CM000667.2:g.90720073A>C	GRCh38
NC_000005.9:g.90015890A>C , CM000667.1:g.90015890A>C	GRCh37
NC_000005.8:g.90051646A>C	NCBI36
NG_007083.1:g.166274A>C
NG_007083.2:g.195730A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9473A>C MANE Select	NP_115495.3:p.Asp3158Ala
ENST00000405460.9:c.9473A>C MANE Select	ENSP00000384582.2:p.Asp3158Ala
NM_032119.3:c.9473A>C	NP_115495.3:p.Asp3158Ala
NR_003149.1:n.9486A>C
NR_003149.2:n.9489A>C
ENST00000405460.6:c.9473A>C	ENSP00000384582.2:p.Asp3158Ala
ENST00000509621.1:c.2170A>C
ENST00000639431.1:c.265+43864A>C	ENSP00000491057.1:n.265+43864A>C
ENST00000640374.1:n.2617A>C
ENST00000640779.1:c.4202A>C
XM_011543675.1:c.9470A>C	XP_011541977.1:p.Asp3157Ala
XM_011543676.1:c.9392A>C	XP_011541978.1:p.Asp3131Ala
XM_011543677.1:c.6776A>C	XP_011541979.1:p.Asp2259Ala
XM_011543678.1:c.9473A>C	XP_011541980.1:p.Asp3158Ala
XM_011543679.1:c.9473A>C	XP_011541981.1:p.Asp3158Ala
XM_017009963.2:c.9494A>C	XP_016865452.1:p.Asp3165Ala
XM_017009964.2:c.9491A>C	XP_016865453.1:p.Asp3164Ala
XM_017009965.1:c.9491A>C	XP_016865454.1:p.Asp3164Ala
XM_017009966.2:c.9413A>C	XP_016865455.1:p.Asp3138Ala
XM_017009967.1:c.9398A>C	XP_016865456.1:p.Asp3133Ala
XM_017009968.2:c.9494A>C	XP_016865457.1:p.Asp3165Ala
XM_017009969.2:c.9494A>C	XP_016865458.1:p.Asp3165Ala
XM_017009970.2:c.9494A>C	XP_016865459.1:p.Asp3165Ala
XM_017009971.2:c.9494A>C	XP_016865460.1:p.Asp3165Ala
XM_017009972.1:c.2612A>C	XP_016865461.1:p.Asp871Ala
XM_017009973.1:c.2591A>C	XP_016865462.1:p.Asp864Ala
XM_017009974.2:c.9494A>C	XP_016865463.1:p.Asp3165Ala
XR_001742802.1:n.2523-4264T>G
XR_948560.1:n.272-4264T>G