Canonical Allele Identifier: CA247447

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 198661
• ClinVar RCV Id: RCV000180061 ; RCV000724399 ; RCV002478599
• dbSNP Id: rs376376418
• ExAC: 5:90106222 G / A
• gnomAD v2: 5-90106222-G-A
• gnomAD v3: 5-90810405-G-A
• gnomAD v4: 5-90810405-G-A
• MyVariant Identifiers: chr5:g.90106222G>A (hg19) ; chr5:g.90810405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90810405G>A , CM000667.2:g.90810405G>A	GRCh38
NC_000005.9:g.90106222G>A , CM000667.1:g.90106222G>A	GRCh37
NC_000005.8:g.90141978G>A	NCBI36
NG_007083.1:g.256606G>A
NG_007083.2:g.286062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.15145G>A MANE Select	ENSP00000384582.2:p.Ala5049Thr
ENST00000425867.3:c.4099G>A	ENSP00000392618.3:p.Ala1367Thr
ENST00000638510.1:n.2412G>A
ENST00000638585.1:n.600G>A
ENST00000639431.1:c.265+134196G>A	ENSP00000491057.1:n.265+134196G>A
ENST00000640407.1:c.1555G>A	ENSP00000491425.1:p.Ala519Thr
ENST00000405460.6:c.15145G>A	ENSP00000384582.2:p.Ala5049Thr
ENST00000425867.2:c.2128G>A	ENSP00000392618.2:p.Ala710Thr
NM_032119.3:c.15145G>A	NP_115495.3:p.Ala5049Thr
NR_003149.1:n.15158G>A
XM_011543675.1:c.15142G>A	XP_011541977.1:p.Ala5048Thr
XM_011543676.1:c.15064G>A	XP_011541978.1:p.Ala5022Thr
XM_011543677.1:c.12448G>A	XP_011541979.1:p.Ala4150Thr
NM_032119.4:c.15145G>A MANE Select	NP_115495.3:p.Ala5049Thr
XM_017009963.2:c.15166G>A	XP_016865452.1:p.Ala5056Thr
XM_017009964.2:c.15163G>A	XP_016865453.1:p.Ala5055Thr
XM_017009965.1:c.15163G>A	XP_016865454.1:p.Ala5055Thr
XM_017009966.2:c.15085G>A	XP_016865455.1:p.Ala5029Thr
XM_017009967.1:c.15070G>A	XP_016865456.1:p.Ala5024Thr
XM_017009968.2:c.14986G>A	XP_016865457.1:p.Ala4996Thr
XM_017009969.2:c.15166G>A	XP_016865458.1:p.Ala5056Thr
XM_017009971.2:c.*99G>A	XP_016865460.1:n.*99G>A
XM_017009972.1:c.8284G>A	XP_016865461.1:p.Ala2762Thr
XM_017009973.1:c.8263G>A	XP_016865462.1:p.Ala2755Thr
NR_003149.2:n.15161G>A