Canonical Allele Identifier: CA360408794

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2821617
• ClinVar RCV Id: RCV003711718
• MyVariant Identifiers: chr5:g.90041415G>T (hg19) ; chr5:g.90745598G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745598G>T , CM000667.2:g.90745598G>T	GRCh38
NC_000005.9:g.90041415G>T , CM000667.1:g.90041415G>T	GRCh37
NC_000005.8:g.90077171G>T	NCBI36
NG_007083.1:g.191799G>T
NG_007083.2:g.221255G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10777G>T MANE Select	ENSP00000384582.2:p.Glu3593Ter
ENST00000639431.1:c.265+69389G>T	ENSP00000491057.1:n.265+69389G>T
ENST00000640374.1:n.3921G>T
ENST00000640464.1:n.1196G>T
ENST00000405460.6:c.10777G>T	ENSP00000384582.2:p.Glu3593Ter
ENST00000509621.1:c.3474G>T
NM_032119.3:c.10777G>T	NP_115495.3:p.Glu3593Ter
NR_003149.1:n.10790G>T
XM_011543675.1:c.10774G>T	XP_011541977.1:p.Glu3592Ter
XM_011543676.1:c.10696G>T	XP_011541978.1:p.Glu3566Ter
XM_011543677.1:c.8080G>T	XP_011541979.1:p.Glu2694Ter
XM_011543678.1:c.10777G>T	XP_011541980.1:p.Glu3593Ter
XM_011543679.1:c.10772G>T	XP_011541981.1:p.Ter3591Leu
NM_032119.4:c.10777G>T MANE Select	NP_115495.3:p.Glu3593Ter
XM_017009963.2:c.10798G>T	XP_016865452.1:p.Glu3600Ter
XM_017009964.2:c.10795G>T	XP_016865453.1:p.Glu3599Ter
XM_017009965.1:c.10795G>T	XP_016865454.1:p.Glu3599Ter
XM_017009966.2:c.10717G>T	XP_016865455.1:p.Glu3573Ter
XM_017009967.1:c.10702G>T	XP_016865456.1:p.Glu3568Ter
XM_017009968.2:c.10798G>T	XP_016865457.1:p.Glu3600Ter
XM_017009969.2:c.10798G>T	XP_016865458.1:p.Glu3600Ter
XM_017009970.2:c.10798G>T	XP_016865459.1:p.Glu3600Ter
XM_017009971.2:c.10798G>T	XP_016865460.1:p.Glu3600Ter
XM_017009972.1:c.3916G>T	XP_016865461.1:p.Glu1306Ter
XM_017009973.1:c.3895G>T	XP_016865462.1:p.Glu1299Ter
XM_017009974.2:c.10793G>T	XP_016865463.1:p.Ter3598Leu
NR_003149.2:n.10793G>T