Canonical Allele Identifier: CA138173

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46351
• ClinVar RCV Id: RCV000039607 ; RCV000903694 ; RCV001155314 ; RCV004549469
• dbSNP Id: rs186999408
• ExAC: 5:89981639 C / T
• gnomAD v2: 5-89981639-C-T
• gnomAD v3: 5-90685822-C-T
• gnomAD v4: 5-90685822-C-T
• COSMIC: COSM39595
• MyVariant Identifiers: chr5:g.89981639C>T (hg19) ; chr5:g.90685822C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90685822C>T , CM000667.2:g.90685822C>T	GRCh38
NC_000005.9:g.89981639C>T , CM000667.1:g.89981639C>T	GRCh37
NC_000005.8:g.90017395C>T	NCBI36
NG_007083.1:g.132023C>T
NG_007083.2:g.161479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6317C>T MANE Select	ENSP00000384582.2:p.Ala2106Val
ENST00000639431.1:c.265+9613C>T	ENSP00000491057.1:n.265+9613C>T
ENST00000639473.1:n.1776C>T
ENST00000640012.1:c.207C>T
ENST00000640403.1:c.3608C>T	ENSP00000492531.1:p.Ala1203Val
ENST00000640779.1:c.1129C>T
ENST00000405460.6:c.6317C>T	ENSP00000384582.2:p.Ala2106Val
NM_032119.3:c.6317C>T	NP_115495.3:p.Ala2106Val
NR_003149.1:n.6413C>T
XM_011543675.1:c.6314C>T	XP_011541977.1:p.Ala2105Val
XM_011543676.1:c.6236C>T	XP_011541978.1:p.Ala2079Val
XM_011543677.1:c.3620C>T	XP_011541979.1:p.Ala1207Val
XM_011543678.1:c.6317C>T	XP_011541980.1:p.Ala2106Val
XM_011543679.1:c.6317C>T	XP_011541981.1:p.Ala2106Val
NM_032119.4:c.6317C>T MANE Select	NP_115495.3:p.Ala2106Val
XM_017009963.2:c.6317C>T	XP_016865452.1:p.Ala2106Val
XM_017009964.2:c.6314C>T	XP_016865453.1:p.Ala2105Val
XM_017009965.1:c.6314C>T	XP_016865454.1:p.Ala2105Val
XM_017009966.2:c.6236C>T	XP_016865455.1:p.Ala2079Val
XM_017009967.1:c.6221C>T	XP_016865456.1:p.Ala2074Val
XM_017009968.2:c.6317C>T	XP_016865457.1:p.Ala2106Val
XM_017009969.2:c.6317C>T	XP_016865458.1:p.Ala2106Val
XM_017009970.2:c.6317C>T	XP_016865459.1:p.Ala2106Val
XM_017009971.2:c.6317C>T	XP_016865460.1:p.Ala2106Val
XM_017009973.1:c.-483C>T	XP_016865462.1:n.-483C>T
XM_017009974.2:c.6317C>T	XP_016865463.1:p.Ala2106Val
NR_003149.2:n.6416C>T