Canonical Allele Identifier: CA445413760

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2770525
• ClinVar RCV Id: RCV003580721
• MyVariant Identifiers: chr5:g.90012456C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716639C>T , CM000667.2:g.90716639C>T	GRCh38
NC_000005.9:g.90012456C>T , CM000667.1:g.90012456C>T	GRCh37
NC_000005.8:g.90048212C>T	NCBI36
NG_007083.1:g.162840C>T
NG_007083.2:g.192296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9357C>T MANE Select	ENSP00000384582.2:p.Phe3119=
ENST00000639431.1:c.265+40430C>T	ENSP00000491057.1:n.265+40430C>T
ENST00000639473.1:n.4816C>T
ENST00000640012.1:c.3164C>T
ENST00000640374.1:n.2501C>T
ENST00000640779.1:c.4086C>T
ENST00000405460.6:c.9357C>T	ENSP00000384582.2:p.Phe3119=
ENST00000509621.1:c.2054C>T
NM_032119.3:c.9357C>T	NP_115495.3:p.Phe3119=
NR_003149.1:n.9370C>T
XM_011543675.1:c.9354C>T	XP_011541977.1:p.Phe3118=
XM_011543676.1:c.9276C>T	XP_011541978.1:p.Phe3092=
XM_011543677.1:c.6660C>T	XP_011541979.1:p.Phe2220=
XM_011543678.1:c.9357C>T	XP_011541980.1:p.Phe3119=
XM_011543679.1:c.9357C>T	XP_011541981.1:p.Phe3119=
XR_948560.1:n.272-830G>A
NM_032119.4:c.9357C>T MANE Select	NP_115495.3:p.Phe3119=
XM_017009963.2:c.9378C>T	XP_016865452.1:p.Phe3126=
XM_017009964.2:c.9375C>T	XP_016865453.1:p.Phe3125=
XM_017009965.1:c.9375C>T	XP_016865454.1:p.Phe3125=
XM_017009966.2:c.9297C>T	XP_016865455.1:p.Phe3099=
XM_017009967.1:c.9282C>T	XP_016865456.1:p.Phe3094=
XM_017009968.2:c.9378C>T	XP_016865457.1:p.Phe3126=
XM_017009969.2:c.9378C>T	XP_016865458.1:p.Phe3126=
XM_017009970.2:c.9378C>T	XP_016865459.1:p.Phe3126=
XM_017009971.2:c.9378C>T	XP_016865460.1:p.Phe3126=
XM_017009972.1:c.2496C>T	XP_016865461.1:p.Phe832=
XM_017009973.1:c.2475C>T	XP_016865462.1:p.Phe825=
XM_017009974.2:c.9378C>T	XP_016865463.1:p.Phe3126=
XR_001742802.1:n.2523-830G>A
NR_003149.2:n.9373C>T