Canonical Allele Identifier: CA360371571

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988538G>C (hg19) ; chr5:g.90692721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692721G>C , CM000667.2:g.90692721G>C	GRCh38
NC_000005.9:g.89988538G>C , CM000667.1:g.89988538G>C	GRCh37
NC_000005.8:g.90024294G>C	NCBI36
NG_007083.1:g.138922G>C
NG_007083.2:g.168378G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7068G>C MANE Select	ENSP00000384582.2:p.Gln2356His
ENST00000639431.1:c.265+16512G>C	ENSP00000491057.1:n.265+16512G>C
ENST00000639473.1:n.2527G>C
ENST00000640012.1:c.875G>C
ENST00000640374.1:n.212G>C
ENST00000640403.1:c.4359G>C	ENSP00000492531.1:p.Gln1453His
ENST00000640779.1:c.1797G>C
ENST00000405460.6:c.7068G>C	ENSP00000384582.2:p.Gln2356His
NM_032119.3:c.7068G>C	NP_115495.3:p.Gln2356His
NR_003149.1:n.7081G>C
XM_011543675.1:c.7065G>C	XP_011541977.1:p.Gln2355His
XM_011543676.1:c.6987G>C	XP_011541978.1:p.Gln2329His
XM_011543677.1:c.4371G>C	XP_011541979.1:p.Gln1457His
XM_011543678.1:c.7068G>C	XP_011541980.1:p.Gln2356His
XM_011543679.1:c.7068G>C	XP_011541981.1:p.Gln2356His
NM_032119.4:c.7068G>C MANE Select	NP_115495.3:p.Gln2356His
XM_017009963.2:c.7068G>C	XP_016865452.1:p.Gln2356His
XM_017009964.2:c.7065G>C	XP_016865453.1:p.Gln2355His
XM_017009965.1:c.7065G>C	XP_016865454.1:p.Gln2355His
XM_017009966.2:c.6987G>C	XP_016865455.1:p.Gln2329His
XM_017009967.1:c.6972G>C	XP_016865456.1:p.Gln2324His
XM_017009968.2:c.7068G>C	XP_016865457.1:p.Gln2356His
XM_017009969.2:c.7068G>C	XP_016865458.1:p.Gln2356His
XM_017009970.2:c.7068G>C	XP_016865459.1:p.Gln2356His
XM_017009971.2:c.7068G>C	XP_016865460.1:p.Gln2356His
XM_017009972.1:c.186G>C	XP_016865461.1:p.Gln62His
XM_017009973.1:c.186G>C	XP_016865462.1:p.Gln62His
XM_017009974.2:c.7068G>C	XP_016865463.1:p.Gln2356His
NR_003149.2:n.7084G>C