Canonical Allele Identifier: CA138151

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46340
• ClinVar RCV Id: RCV000039596 ; RCV000723976 ; RCV001151458
• dbSNP Id: rs41311335
• ExAC: 5:89979523 G / T
• gnomAD v2: 5-89979523-G-T
• gnomAD v3: 5-90683706-G-T
• gnomAD v4: 5-90683706-G-T
• MyVariant Identifiers: chr5:g.89979523G>T (hg19) ; chr5:g.90683706G>T (hg38)
• PubMed: PMID:22135276

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90683706G>T , CM000667.2:g.90683706G>T	GRCh38
NC_000005.9:g.89979523G>T , CM000667.1:g.89979523G>T	GRCh37
NC_000005.8:g.90015279G>T	NCBI36
NG_007083.1:g.129907G>T
NG_007083.2:g.159363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.5785G>T MANE Select	ENSP00000384582.2:p.Ala1929Ser
ENST00000639431.1:c.265+7497G>T	ENSP00000491057.1:n.265+7497G>T
ENST00000639473.1:n.1244G>T
ENST00000640012.1:c.165-2074G>T
ENST00000640403.1:c.3076G>T	ENSP00000492531.1:p.Ala1026Ser
ENST00000640779.1:c.597G>T
ENST00000405460.6:c.5785G>T	ENSP00000384582.2:p.Ala1929Ser
NM_032119.3:c.5785G>T	NP_115495.3:p.Ala1929Ser
NR_003149.1:n.5881G>T
XM_011543675.1:c.5782G>T	XP_011541977.1:p.Ala1928Ser
XM_011543676.1:c.5704G>T	XP_011541978.1:p.Ala1902Ser
XM_011543677.1:c.3088G>T	XP_011541979.1:p.Ala1030Ser
XM_011543678.1:c.5785G>T	XP_011541980.1:p.Ala1929Ser
XM_011543679.1:c.5785G>T	XP_011541981.1:p.Ala1929Ser
NM_032119.4:c.5785G>T MANE Select	NP_115495.3:p.Ala1929Ser
XM_017009963.2:c.5785G>T	XP_016865452.1:p.Ala1929Ser
XM_017009964.2:c.5782G>T	XP_016865453.1:p.Ala1928Ser
XM_017009965.1:c.5782G>T	XP_016865454.1:p.Ala1928Ser
XM_017009966.2:c.5704G>T	XP_016865455.1:p.Ala1902Ser
XM_017009967.1:c.5689G>T	XP_016865456.1:p.Ala1897Ser
XM_017009968.2:c.5785G>T	XP_016865457.1:p.Ala1929Ser
XM_017009969.2:c.5785G>T	XP_016865458.1:p.Ala1929Ser
XM_017009970.2:c.5785G>T	XP_016865459.1:p.Ala1929Ser
XM_017009971.2:c.5785G>T	XP_016865460.1:p.Ala1929Ser
XM_017009973.1:c.-1015G>T	XP_016865462.1:n.-1015G>T
XM_017009974.2:c.5785G>T	XP_016865463.1:p.Ala1929Ser
NR_003149.2:n.5884G>T