Canonical Allele Identifier: CA360367067

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2829545
• ClinVar RCV Id: RCV003686341
• dbSNP Id: rs1755691727
• MyVariant Identifiers: chr5:g.90050940G>T (hg19) ; chr5:g.90755123G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755123G>T , CM000667.2:g.90755123G>T	GRCh38
NC_000005.9:g.90050940G>T , CM000667.1:g.90050940G>T	GRCh37
NC_000005.8:g.90086696G>T	NCBI36
NG_007083.1:g.201324G>T
NG_007083.2:g.230780G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11518G>T MANE Select	ENSP00000384582.2:p.Glu3840Ter
ENST00000425867.3:c.649G>T	ENSP00000392618.3:p.Glu217Ter
ENST00000639431.1:c.265+78914G>T	ENSP00000491057.1:n.265+78914G>T
ENST00000640374.1:n.4662G>T
ENST00000640464.1:n.1937G>T
ENST00000405460.6:c.11518G>T	ENSP00000384582.2:p.Glu3840Ter
ENST00000509621.1:c.4215G>T
NM_032119.3:c.11518G>T	NP_115495.3:p.Glu3840Ter
NR_003149.1:n.11531G>T
XM_011543675.1:c.11515G>T	XP_011541977.1:p.Glu3839Ter
XM_011543676.1:c.11437G>T	XP_011541978.1:p.Glu3813Ter
XM_011543677.1:c.8821G>T	XP_011541979.1:p.Glu2941Ter
XM_011543678.1:c.11518G>T	XP_011541980.1:p.Glu3840Ter
NM_032119.4:c.11518G>T MANE Select	NP_115495.3:p.Glu3840Ter
XM_017009963.2:c.11539G>T	XP_016865452.1:p.Glu3847Ter
XM_017009964.2:c.11536G>T	XP_016865453.1:p.Glu3846Ter
XM_017009965.1:c.11536G>T	XP_016865454.1:p.Glu3846Ter
XM_017009966.2:c.11458G>T	XP_016865455.1:p.Glu3820Ter
XM_017009967.1:c.11443G>T	XP_016865456.1:p.Glu3815Ter
XM_017009968.2:c.11539G>T	XP_016865457.1:p.Glu3847Ter
XM_017009969.2:c.11539G>T	XP_016865458.1:p.Glu3847Ter
XM_017009970.2:c.11539G>T	XP_016865459.1:p.Glu3847Ter
XM_017009971.2:c.11539G>T	XP_016865460.1:p.Glu3847Ter
XM_017009972.1:c.4657G>T	XP_016865461.1:p.Glu1553Ter
XM_017009973.1:c.4636G>T	XP_016865462.1:p.Glu1546Ter
NR_003149.2:n.11534G>T