Canonical Allele Identifier: CA360377123

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059134G>C (hg19) ; chr5:g.90763317G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763317G>C , CM000667.2:g.90763317G>C	GRCh38
NC_000005.9:g.90059134G>C , CM000667.1:g.90059134G>C	GRCh37
NC_000005.8:g.90094890G>C	NCBI36
NG_007083.1:g.209518G>C
NG_007083.2:g.238974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12133G>C MANE Select	ENSP00000384582.2:p.Glu4045Gln
ENST00000425867.3:c.1087G>C	ENSP00000392618.3:p.Glu363Gln
ENST00000639431.1:c.265+87108G>C	ENSP00000491057.1:n.265+87108G>C
ENST00000640464.1:n.2552G>C
ENST00000640729.1:n.710G>C
ENST00000405460.6:c.12133G>C	ENSP00000384582.2:p.Glu4045Gln
NM_032119.3:c.12133G>C	NP_115495.3:p.Glu4045Gln
NR_003149.1:n.12146G>C
XM_011543675.1:c.12130G>C	XP_011541977.1:p.Glu4044Gln
XM_011543676.1:c.12052G>C	XP_011541978.1:p.Glu4018Gln
XM_011543677.1:c.9436G>C	XP_011541979.1:p.Glu3146Gln
XM_011543678.1:c.12133G>C	XP_011541980.1:p.Glu4045Gln
NM_032119.4:c.12133G>C MANE Select	NP_115495.3:p.Glu4045Gln
XM_017009963.2:c.12154G>C	XP_016865452.1:p.Glu4052Gln
XM_017009964.2:c.12151G>C	XP_016865453.1:p.Glu4051Gln
XM_017009965.1:c.12151G>C	XP_016865454.1:p.Glu4051Gln
XM_017009966.2:c.12073G>C	XP_016865455.1:p.Glu4025Gln
XM_017009967.1:c.12058G>C	XP_016865456.1:p.Glu4020Gln
XM_017009968.2:c.12154G>C	XP_016865457.1:p.Glu4052Gln
XM_017009969.2:c.12154G>C	XP_016865458.1:p.Glu4052Gln
XM_017009970.2:c.12154G>C	XP_016865459.1:p.Glu4052Gln
XM_017009971.2:c.12154G>C	XP_016865460.1:p.Glu4052Gln
XM_017009972.1:c.5272G>C	XP_016865461.1:p.Glu1758Gln
XM_017009973.1:c.5251G>C	XP_016865462.1:p.Glu1751Gln
NR_003149.2:n.12149G>C