Canonical Allele Identifier: CA360371752

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1257696195
• gnomAD v2: 5-89988560-C-A
• gnomAD v4: 5-90692743-C-A
• MyVariant Identifiers: chr5:g.89988560C>A (hg19) ; chr5:g.90692743C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692743C>A , CM000667.2:g.90692743C>A	GRCh38
NC_000005.9:g.89988560C>A , CM000667.1:g.89988560C>A	GRCh37
NC_000005.8:g.90024316C>A	NCBI36
NG_007083.1:g.138944C>A
NG_007083.2:g.168400C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.7090C>A MANE Select	ENSP00000384582.2:p.Pro2364Thr
ENST00000639431.1:c.265+16534C>A	ENSP00000491057.1:n.265+16534C>A
ENST00000639473.1:n.2549C>A
ENST00000640012.1:c.897C>A
ENST00000640374.1:n.234C>A
ENST00000640403.1:c.4381C>A	ENSP00000492531.1:p.Pro1461Thr
ENST00000640779.1:c.1819C>A
ENST00000405460.6:c.7090C>A	ENSP00000384582.2:p.Pro2364Thr
NM_032119.3:c.7090C>A	NP_115495.3:p.Pro2364Thr
NR_003149.1:n.7103C>A
XM_011543675.1:c.7087C>A	XP_011541977.1:p.Pro2363Thr
XM_011543676.1:c.7009C>A	XP_011541978.1:p.Pro2337Thr
XM_011543677.1:c.4393C>A	XP_011541979.1:p.Pro1465Thr
XM_011543678.1:c.7090C>A	XP_011541980.1:p.Pro2364Thr
XM_011543679.1:c.7090C>A	XP_011541981.1:p.Pro2364Thr
NM_032119.4:c.7090C>A MANE Select	NP_115495.3:p.Pro2364Thr
XM_017009963.2:c.7090C>A	XP_016865452.1:p.Pro2364Thr
XM_017009964.2:c.7087C>A	XP_016865453.1:p.Pro2363Thr
XM_017009965.1:c.7087C>A	XP_016865454.1:p.Pro2363Thr
XM_017009966.2:c.7009C>A	XP_016865455.1:p.Pro2337Thr
XM_017009967.1:c.6994C>A	XP_016865456.1:p.Pro2332Thr
XM_017009968.2:c.7090C>A	XP_016865457.1:p.Pro2364Thr
XM_017009969.2:c.7090C>A	XP_016865458.1:p.Pro2364Thr
XM_017009970.2:c.7090C>A	XP_016865459.1:p.Pro2364Thr
XM_017009971.2:c.7090C>A	XP_016865460.1:p.Pro2364Thr
XM_017009972.1:c.208C>A	XP_016865461.1:p.Pro70Thr
XM_017009973.1:c.208C>A	XP_016865462.1:p.Pro70Thr
XM_017009974.2:c.7090C>A	XP_016865463.1:p.Pro2364Thr
NR_003149.2:n.7106C>A