Canonical Allele Identifier: CA3341161

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 228706
• ClinVar RCV Id: RCV000213261 ; RCV000710425 ; RCV000765849 ; RCV001153110
• dbSNP Id: rs375632680
• ExAC: 5:90059129 T / C
• gnomAD v2: 5-90059129-T-C
• gnomAD v3: 5-90763312-T-C
• gnomAD v4: 5-90763312-T-C
• MyVariant Identifiers: chr5:g.90059129T>C (hg19) ; chr5:g.90763312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763312T>C , CM000667.2:g.90763312T>C	GRCh38
NC_000005.9:g.90059129T>C , CM000667.1:g.90059129T>C	GRCh37
NC_000005.8:g.90094885T>C	NCBI36
NG_007083.1:g.209513T>C
NG_007083.2:g.238969T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12128T>C MANE Select	ENSP00000384582.2:p.Ile4043Thr
ENST00000425867.3:c.1082T>C	ENSP00000392618.3:p.Ile361Thr
ENST00000639431.1:c.265+87103T>C	ENSP00000491057.1:n.265+87103T>C
ENST00000640464.1:n.2547T>C
ENST00000640729.1:n.705T>C
ENST00000405460.6:c.12128T>C	ENSP00000384582.2:p.Ile4043Thr
NM_032119.3:c.12128T>C	NP_115495.3:p.Ile4043Thr
NR_003149.1:n.12141T>C
XM_011543675.1:c.12125T>C	XP_011541977.1:p.Ile4042Thr
XM_011543676.1:c.12047T>C	XP_011541978.1:p.Ile4016Thr
XM_011543677.1:c.9431T>C	XP_011541979.1:p.Ile3144Thr
XM_011543678.1:c.12128T>C	XP_011541980.1:p.Ile4043Thr
NM_032119.4:c.12128T>C MANE Select	NP_115495.3:p.Ile4043Thr
XM_017009963.2:c.12149T>C	XP_016865452.1:p.Ile4050Thr
XM_017009964.2:c.12146T>C	XP_016865453.1:p.Ile4049Thr
XM_017009965.1:c.12146T>C	XP_016865454.1:p.Ile4049Thr
XM_017009966.2:c.12068T>C	XP_016865455.1:p.Ile4023Thr
XM_017009967.1:c.12053T>C	XP_016865456.1:p.Ile4018Thr
XM_017009968.2:c.12149T>C	XP_016865457.1:p.Ile4050Thr
XM_017009969.2:c.12149T>C	XP_016865458.1:p.Ile4050Thr
XM_017009970.2:c.12149T>C	XP_016865459.1:p.Ile4050Thr
XM_017009971.2:c.12149T>C	XP_016865460.1:p.Ile4050Thr
XM_017009972.1:c.5267T>C	XP_016865461.1:p.Ile1756Thr
XM_017009973.1:c.5246T>C	XP_016865462.1:p.Ile1749Thr
NR_003149.2:n.12144T>C