Canonical Allele Identifier: CA360403380

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1375316180
• gnomAD v3: 5-90725643-C-A
• gnomAD v4: 5-90725643-C-A
• MyVariant Identifiers: chr5:g.90021460C>A (hg19) ; chr5:g.90725643C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90725643C>A , CM000667.2:g.90725643C>A	GRCh38
NC_000005.9:g.90021460C>A , CM000667.1:g.90021460C>A	GRCh37
NC_000005.8:g.90057216C>A	NCBI36
NG_007083.1:g.171844C>A
NG_007083.2:g.201300C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10148C>A MANE Select	ENSP00000384582.2:p.Ser3383Tyr
ENST00000639431.1:c.265+49434C>A	ENSP00000491057.1:n.265+49434C>A
ENST00000640374.1:n.3292C>A
ENST00000640464.1:n.567C>A
ENST00000405460.6:c.10148C>A	ENSP00000384582.2:p.Ser3383Tyr
ENST00000509621.1:c.2845C>A
NM_032119.3:c.10148C>A	NP_115495.3:p.Ser3383Tyr
NR_003149.1:n.10161C>A
XM_011543675.1:c.10145C>A	XP_011541977.1:p.Ser3382Tyr
XM_011543676.1:c.10067C>A	XP_011541978.1:p.Ser3356Tyr
XM_011543677.1:c.7451C>A	XP_011541979.1:p.Ser2484Tyr
XM_011543678.1:c.10148C>A	XP_011541980.1:p.Ser3383Tyr
XM_011543679.1:c.10148C>A	XP_011541981.1:p.Ser3383Tyr
XR_948560.1:n.272-9834G>T
NM_032119.4:c.10148C>A MANE Select	NP_115495.3:p.Ser3383Tyr
XM_017009963.2:c.10169C>A	XP_016865452.1:p.Ser3390Tyr
XM_017009964.2:c.10166C>A	XP_016865453.1:p.Ser3389Tyr
XM_017009965.1:c.10166C>A	XP_016865454.1:p.Ser3389Tyr
XM_017009966.2:c.10088C>A	XP_016865455.1:p.Ser3363Tyr
XM_017009967.1:c.10073C>A	XP_016865456.1:p.Ser3358Tyr
XM_017009968.2:c.10169C>A	XP_016865457.1:p.Ser3390Tyr
XM_017009969.2:c.10169C>A	XP_016865458.1:p.Ser3390Tyr
XM_017009970.2:c.10169C>A	XP_016865459.1:p.Ser3390Tyr
XM_017009971.2:c.10169C>A	XP_016865460.1:p.Ser3390Tyr
XM_017009972.1:c.3287C>A	XP_016865461.1:p.Ser1096Tyr
XM_017009973.1:c.3266C>A	XP_016865462.1:p.Ser1089Tyr
XM_017009974.2:c.10169C>A	XP_016865463.1:p.Ser3390Tyr
XR_001742802.1:n.2523-9834G>T
NR_003149.2:n.10164C>A