Canonical Allele Identifier: CA360370782

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90692629-G-T
• MyVariant Identifiers: chr5:g.89988446G>T (hg19) ; chr5:g.90692629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692629G>T , CM000667.2:g.90692629G>T	GRCh38
NC_000005.9:g.89988446G>T , CM000667.1:g.89988446G>T	GRCh37
NC_000005.8:g.90024202G>T	NCBI36
NG_007083.1:g.138830G>T
NG_007083.2:g.168286G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6976G>T MANE Select	ENSP00000384582.2:p.Ala2326Ser
ENST00000639431.1:c.265+16420G>T	ENSP00000491057.1:n.265+16420G>T
ENST00000639473.1:n.2435G>T
ENST00000640012.1:c.783G>T
ENST00000640374.1:n.120G>T
ENST00000640403.1:c.4267G>T	ENSP00000492531.1:p.Ala1423Ser
ENST00000640779.1:c.1705G>T
ENST00000405460.6:c.6976G>T	ENSP00000384582.2:p.Ala2326Ser
NM_032119.3:c.6976G>T	NP_115495.3:p.Ala2326Ser
NR_003149.1:n.6989G>T
XM_011543675.1:c.6973G>T	XP_011541977.1:p.Ala2325Ser
XM_011543676.1:c.6895G>T	XP_011541978.1:p.Ala2299Ser
XM_011543677.1:c.4279G>T	XP_011541979.1:p.Ala1427Ser
XM_011543678.1:c.6976G>T	XP_011541980.1:p.Ala2326Ser
XM_011543679.1:c.6976G>T	XP_011541981.1:p.Ala2326Ser
NM_032119.4:c.6976G>T MANE Select	NP_115495.3:p.Ala2326Ser
XM_017009963.2:c.6976G>T	XP_016865452.1:p.Ala2326Ser
XM_017009964.2:c.6973G>T	XP_016865453.1:p.Ala2325Ser
XM_017009965.1:c.6973G>T	XP_016865454.1:p.Ala2325Ser
XM_017009966.2:c.6895G>T	XP_016865455.1:p.Ala2299Ser
XM_017009967.1:c.6880G>T	XP_016865456.1:p.Ala2294Ser
XM_017009968.2:c.6976G>T	XP_016865457.1:p.Ala2326Ser
XM_017009969.2:c.6976G>T	XP_016865458.1:p.Ala2326Ser
XM_017009970.2:c.6976G>T	XP_016865459.1:p.Ala2326Ser
XM_017009971.2:c.6976G>T	XP_016865460.1:p.Ala2326Ser
XM_017009972.1:c.94G>T	XP_016865461.1:p.Ala32Ser
XM_017009973.1:c.94G>T	XP_016865462.1:p.Ala32Ser
XM_017009974.2:c.6976G>T	XP_016865463.1:p.Ala2326Ser
NR_003149.2:n.6992G>T