Canonical Allele Identifier: CA138165

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46347
• ClinVar RCV Id: RCV000039603 ; RCV000514078
• dbSNP Id: rs142013761
• ExAC: 5:89979833 C / T
• gnomAD v2: 5-89979833-C-T
• gnomAD v3: 5-90684016-C-T
• gnomAD v4: 5-90684016-C-T
• MyVariant Identifiers: chr5:g.89979833C>T (hg19) ; chr5:g.90684016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90684016C>T , CM000667.2:g.90684016C>T	GRCh38
NC_000005.9:g.89979833C>T , CM000667.1:g.89979833C>T	GRCh37
NC_000005.8:g.90015589C>T	NCBI36
NG_007083.1:g.130217C>T
NG_007083.2:g.159673C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6095C>T MANE Select	ENSP00000384582.2:p.Ala2032Val
ENST00000639431.1:c.265+7807C>T	ENSP00000491057.1:n.265+7807C>T
ENST00000639473.1:n.1554C>T
ENST00000640012.1:c.165-1764C>T
ENST00000640403.1:c.3386C>T	ENSP00000492531.1:p.Ala1129Val
ENST00000640779.1:c.907C>T
ENST00000405460.6:c.6095C>T	ENSP00000384582.2:p.Ala2032Val
NM_032119.3:c.6095C>T	NP_115495.3:p.Ala2032Val
NR_003149.1:n.6191C>T
XM_011543675.1:c.6092C>T	XP_011541977.1:p.Ala2031Val
XM_011543676.1:c.6014C>T	XP_011541978.1:p.Ala2005Val
XM_011543677.1:c.3398C>T	XP_011541979.1:p.Ala1133Val
XM_011543678.1:c.6095C>T	XP_011541980.1:p.Ala2032Val
XM_011543679.1:c.6095C>T	XP_011541981.1:p.Ala2032Val
NM_032119.4:c.6095C>T MANE Select	NP_115495.3:p.Ala2032Val
XM_017009963.2:c.6095C>T	XP_016865452.1:p.Ala2032Val
XM_017009964.2:c.6092C>T	XP_016865453.1:p.Ala2031Val
XM_017009965.1:c.6092C>T	XP_016865454.1:p.Ala2031Val
XM_017009966.2:c.6014C>T	XP_016865455.1:p.Ala2005Val
XM_017009967.1:c.5999C>T	XP_016865456.1:p.Ala2000Val
XM_017009968.2:c.6095C>T	XP_016865457.1:p.Ala2032Val
XM_017009969.2:c.6095C>T	XP_016865458.1:p.Ala2032Val
XM_017009970.2:c.6095C>T	XP_016865459.1:p.Ala2032Val
XM_017009971.2:c.6095C>T	XP_016865460.1:p.Ala2032Val
XM_017009973.1:c.-705C>T	XP_016865462.1:n.-705C>T
XM_017009974.2:c.6095C>T	XP_016865463.1:p.Ala2032Val
NR_003149.2:n.6194C>T