Canonical Allele Identifier: CA122797188

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2880730
• ClinVar RCV Id: RCV003715499
• dbSNP Id: rs918127412
• MyVariant Identifiers: chr5:g.89988517T>C (hg19) ; chr5:g.90692700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692700T>C , CM000667.2:g.90692700T>C	GRCh38
NC_000005.9:g.89988517T>C , CM000667.1:g.89988517T>C	GRCh37
NC_000005.8:g.90024273T>C	NCBI36
NG_007083.1:g.138901T>C
NG_007083.2:g.168357T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7047T>C MANE Select	ENSP00000384582.2:p.Tyr2349=
ENST00000639431.1:c.265+16491T>C	ENSP00000491057.1:n.265+16491T>C
ENST00000639473.1:n.2506T>C
ENST00000640012.1:c.854T>C
ENST00000640374.1:n.191T>C
ENST00000640403.1:c.4338T>C	ENSP00000492531.1:p.Tyr1446=
ENST00000640779.1:c.1776T>C
ENST00000405460.6:c.7047T>C	ENSP00000384582.2:p.Tyr2349=
NM_032119.3:c.7047T>C	NP_115495.3:p.Tyr2349=
NR_003149.1:n.7060T>C
XM_011543675.1:c.7044T>C	XP_011541977.1:p.Tyr2348=
XM_011543676.1:c.6966T>C	XP_011541978.1:p.Tyr2322=
XM_011543677.1:c.4350T>C	XP_011541979.1:p.Tyr1450=
XM_011543678.1:c.7047T>C	XP_011541980.1:p.Tyr2349=
XM_011543679.1:c.7047T>C	XP_011541981.1:p.Tyr2349=
NM_032119.4:c.7047T>C MANE Select	NP_115495.3:p.Tyr2349=
XM_017009963.2:c.7047T>C	XP_016865452.1:p.Tyr2349=
XM_017009964.2:c.7044T>C	XP_016865453.1:p.Tyr2348=
XM_017009965.1:c.7044T>C	XP_016865454.1:p.Tyr2348=
XM_017009966.2:c.6966T>C	XP_016865455.1:p.Tyr2322=
XM_017009967.1:c.6951T>C	XP_016865456.1:p.Tyr2317=
XM_017009968.2:c.7047T>C	XP_016865457.1:p.Tyr2349=
XM_017009969.2:c.7047T>C	XP_016865458.1:p.Tyr2349=
XM_017009970.2:c.7047T>C	XP_016865459.1:p.Tyr2349=
XM_017009971.2:c.7047T>C	XP_016865460.1:p.Tyr2349=
XM_017009972.1:c.165T>C	XP_016865461.1:p.Tyr55=
XM_017009973.1:c.165T>C	XP_016865462.1:p.Tyr55=
XM_017009974.2:c.7047T>C	XP_016865463.1:p.Tyr2349=
NR_003149.2:n.7063T>C