Canonical Allele Identifier: CA360377131

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059135A>C (hg19) ; chr5:g.90763318A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763318A>C , CM000667.2:g.90763318A>C	GRCh38
NC_000005.9:g.90059135A>C , CM000667.1:g.90059135A>C	GRCh37
NC_000005.8:g.90094891A>C	NCBI36
NG_007083.1:g.209519A>C
NG_007083.2:g.238975A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12134A>C MANE Select	ENSP00000384582.2:p.Glu4045Ala
ENST00000425867.3:c.1088A>C	ENSP00000392618.3:p.Glu363Ala
ENST00000639431.1:c.265+87109A>C	ENSP00000491057.1:n.265+87109A>C
ENST00000640464.1:n.2553A>C
ENST00000640729.1:n.711A>C
ENST00000405460.6:c.12134A>C	ENSP00000384582.2:p.Glu4045Ala
NM_032119.3:c.12134A>C	NP_115495.3:p.Glu4045Ala
NR_003149.1:n.12147A>C
XM_011543675.1:c.12131A>C	XP_011541977.1:p.Glu4044Ala
XM_011543676.1:c.12053A>C	XP_011541978.1:p.Glu4018Ala
XM_011543677.1:c.9437A>C	XP_011541979.1:p.Glu3146Ala
XM_011543678.1:c.12134A>C	XP_011541980.1:p.Glu4045Ala
NM_032119.4:c.12134A>C MANE Select	NP_115495.3:p.Glu4045Ala
XM_017009963.2:c.12155A>C	XP_016865452.1:p.Glu4052Ala
XM_017009964.2:c.12152A>C	XP_016865453.1:p.Glu4051Ala
XM_017009965.1:c.12152A>C	XP_016865454.1:p.Glu4051Ala
XM_017009966.2:c.12074A>C	XP_016865455.1:p.Glu4025Ala
XM_017009967.1:c.12059A>C	XP_016865456.1:p.Glu4020Ala
XM_017009968.2:c.12155A>C	XP_016865457.1:p.Glu4052Ala
XM_017009969.2:c.12155A>C	XP_016865458.1:p.Glu4052Ala
XM_017009970.2:c.12155A>C	XP_016865459.1:p.Glu4052Ala
XM_017009971.2:c.12155A>C	XP_016865460.1:p.Glu4052Ala
XM_017009972.1:c.5273A>C	XP_016865461.1:p.Glu1758Ala
XM_017009973.1:c.5252A>C	XP_016865462.1:p.Glu1751Ala
NR_003149.2:n.12150A>C