Canonical Allele Identifier: CA360377382

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059159A>C (hg19) ; chr5:g.90763342A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763342A>C , CM000667.2:g.90763342A>C	GRCh38
NC_000005.9:g.90059159A>C , CM000667.1:g.90059159A>C	GRCh37
NC_000005.8:g.90094915A>C	NCBI36
NG_007083.1:g.209543A>C
NG_007083.2:g.238999A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12158A>C MANE Select	ENSP00000384582.2:p.Asp4053Ala
ENST00000425867.3:c.1112A>C	ENSP00000392618.3:p.Asp371Ala
ENST00000639431.1:c.265+87133A>C	ENSP00000491057.1:n.265+87133A>C
ENST00000640464.1:n.2577A>C
ENST00000640729.1:n.735A>C
ENST00000405460.6:c.12158A>C	ENSP00000384582.2:p.Asp4053Ala
NM_032119.3:c.12158A>C	NP_115495.3:p.Asp4053Ala
NR_003149.1:n.12171A>C
XM_011543675.1:c.12155A>C	XP_011541977.1:p.Asp4052Ala
XM_011543676.1:c.12077A>C	XP_011541978.1:p.Asp4026Ala
XM_011543677.1:c.9461A>C	XP_011541979.1:p.Asp3154Ala
XM_011543678.1:c.12158A>C	XP_011541980.1:p.Asp4053Ala
NM_032119.4:c.12158A>C MANE Select	NP_115495.3:p.Asp4053Ala
XM_017009963.2:c.12179A>C	XP_016865452.1:p.Asp4060Ala
XM_017009964.2:c.12176A>C	XP_016865453.1:p.Asp4059Ala
XM_017009965.1:c.12176A>C	XP_016865454.1:p.Asp4059Ala
XM_017009966.2:c.12098A>C	XP_016865455.1:p.Asp4033Ala
XM_017009967.1:c.12083A>C	XP_016865456.1:p.Asp4028Ala
XM_017009968.2:c.12179A>C	XP_016865457.1:p.Asp4060Ala
XM_017009969.2:c.12179A>C	XP_016865458.1:p.Asp4060Ala
XM_017009970.2:c.12179A>C	XP_016865459.1:p.Asp4060Ala
XM_017009971.2:c.12179A>C	XP_016865460.1:p.Asp4060Ala
XM_017009972.1:c.5297A>C	XP_016865461.1:p.Asp1766Ala
XM_017009973.1:c.5276A>C	XP_016865462.1:p.Asp1759Ala
NR_003149.2:n.12174A>C