Canonical Allele Identifier: CA3339946

Gene: ADGRV1

Linked Data

• dbSNP Id: rs751490840
• ExAC: 5:89988459 G / A
• gnomAD v2: 5-89988459-G-A
• gnomAD v4: 5-90692642-G-A
• MyVariant Identifiers: chr5:g.89988459G>A (hg19) ; chr5:g.90692642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692642G>A , CM000667.2:g.90692642G>A	GRCh38
NC_000005.9:g.89988459G>A , CM000667.1:g.89988459G>A	GRCh37
NC_000005.8:g.90024215G>A	NCBI36
NG_007083.1:g.138843G>A
NG_007083.2:g.168299G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6989G>A MANE Select	ENSP00000384582.2:p.Gly2330Asp
ENST00000639431.1:c.265+16433G>A	ENSP00000491057.1:n.265+16433G>A
ENST00000639473.1:n.2448G>A
ENST00000640012.1:c.796G>A
ENST00000640374.1:n.133G>A
ENST00000640403.1:c.4280G>A	ENSP00000492531.1:p.Gly1427Asp
ENST00000640779.1:c.1718G>A
ENST00000405460.6:c.6989G>A	ENSP00000384582.2:p.Gly2330Asp
NM_032119.3:c.6989G>A	NP_115495.3:p.Gly2330Asp
NR_003149.1:n.7002G>A
XM_011543675.1:c.6986G>A	XP_011541977.1:p.Gly2329Asp
XM_011543676.1:c.6908G>A	XP_011541978.1:p.Gly2303Asp
XM_011543677.1:c.4292G>A	XP_011541979.1:p.Gly1431Asp
XM_011543678.1:c.6989G>A	XP_011541980.1:p.Gly2330Asp
XM_011543679.1:c.6989G>A	XP_011541981.1:p.Gly2330Asp
NM_032119.4:c.6989G>A MANE Select	NP_115495.3:p.Gly2330Asp
XM_017009963.2:c.6989G>A	XP_016865452.1:p.Gly2330Asp
XM_017009964.2:c.6986G>A	XP_016865453.1:p.Gly2329Asp
XM_017009965.1:c.6986G>A	XP_016865454.1:p.Gly2329Asp
XM_017009966.2:c.6908G>A	XP_016865455.1:p.Gly2303Asp
XM_017009967.1:c.6893G>A	XP_016865456.1:p.Gly2298Asp
XM_017009968.2:c.6989G>A	XP_016865457.1:p.Gly2330Asp
XM_017009969.2:c.6989G>A	XP_016865458.1:p.Gly2330Asp
XM_017009970.2:c.6989G>A	XP_016865459.1:p.Gly2330Asp
XM_017009971.2:c.6989G>A	XP_016865460.1:p.Gly2330Asp
XM_017009972.1:c.107G>A	XP_016865461.1:p.Gly36Asp
XM_017009973.1:c.107G>A	XP_016865462.1:p.Gly36Asp
XM_017009974.2:c.6989G>A	XP_016865463.1:p.Gly2330Asp
NR_003149.2:n.7005G>A