Canonical Allele Identifier: CA360370992

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90692654-T-G
• MyVariant Identifiers: chr5:g.89988471T>G (hg19) ; chr5:g.90692654T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692654T>G , CM000667.2:g.90692654T>G	GRCh38
NC_000005.9:g.89988471T>G , CM000667.1:g.89988471T>G	GRCh37
NC_000005.8:g.90024227T>G	NCBI36
NG_007083.1:g.138855T>G
NG_007083.2:g.168311T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.7001T>G MANE Select	ENSP00000384582.2:p.Leu2334Ter
ENST00000639431.1:c.265+16445T>G	ENSP00000491057.1:n.265+16445T>G
ENST00000639473.1:n.2460T>G
ENST00000640012.1:c.808T>G
ENST00000640374.1:n.145T>G
ENST00000640403.1:c.4292T>G	ENSP00000492531.1:p.Leu1431Ter
ENST00000640779.1:c.1730T>G
ENST00000405460.6:c.7001T>G	ENSP00000384582.2:p.Leu2334Ter
NM_032119.3:c.7001T>G	NP_115495.3:p.Leu2334Ter
NR_003149.1:n.7014T>G
XM_011543675.1:c.6998T>G	XP_011541977.1:p.Leu2333Ter
XM_011543676.1:c.6920T>G	XP_011541978.1:p.Leu2307Ter
XM_011543677.1:c.4304T>G	XP_011541979.1:p.Leu1435Ter
XM_011543678.1:c.7001T>G	XP_011541980.1:p.Leu2334Ter
XM_011543679.1:c.7001T>G	XP_011541981.1:p.Leu2334Ter
NM_032119.4:c.7001T>G MANE Select	NP_115495.3:p.Leu2334Ter
XM_017009963.2:c.7001T>G	XP_016865452.1:p.Leu2334Ter
XM_017009964.2:c.6998T>G	XP_016865453.1:p.Leu2333Ter
XM_017009965.1:c.6998T>G	XP_016865454.1:p.Leu2333Ter
XM_017009966.2:c.6920T>G	XP_016865455.1:p.Leu2307Ter
XM_017009967.1:c.6905T>G	XP_016865456.1:p.Leu2302Ter
XM_017009968.2:c.7001T>G	XP_016865457.1:p.Leu2334Ter
XM_017009969.2:c.7001T>G	XP_016865458.1:p.Leu2334Ter
XM_017009970.2:c.7001T>G	XP_016865459.1:p.Leu2334Ter
XM_017009971.2:c.7001T>G	XP_016865460.1:p.Leu2334Ter
XM_017009972.1:c.119T>G	XP_016865461.1:p.Leu40Ter
XM_017009973.1:c.119T>G	XP_016865462.1:p.Leu40Ter
XM_017009974.2:c.7001T>G	XP_016865463.1:p.Leu2334Ter
NR_003149.2:n.7017T>G