Canonical Allele Identifier: CA3340842

Gene: ADGRV1

Linked Data

• dbSNP Id: rs774741141
• ExAC: 5:90041496 T / A
• gnomAD v2: 5-90041496-T-A
• gnomAD v4: 5-90745679-T-A
• MyVariant Identifiers: chr5:g.90041496T>A (hg19) ; chr5:g.90745679T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745679T>A , CM000667.2:g.90745679T>A	GRCh38
NC_000005.9:g.90041496T>A , CM000667.1:g.90041496T>A	GRCh37
NC_000005.8:g.90077252T>A	NCBI36
NG_007083.1:g.191880T>A
NG_007083.2:g.221336T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10858T>A MANE Select	ENSP00000384582.2:p.Ser3620Thr
ENST00000639431.1:c.265+69470T>A	ENSP00000491057.1:n.265+69470T>A
ENST00000640374.1:n.4002T>A
ENST00000640464.1:n.1277T>A
ENST00000405460.6:c.10858T>A	ENSP00000384582.2:p.Ser3620Thr
ENST00000509621.1:c.3555T>A
NM_032119.3:c.10858T>A	NP_115495.3:p.Ser3620Thr
NR_003149.1:n.10871T>A
XM_011543675.1:c.10855T>A	XP_011541977.1:p.Ser3619Thr
XM_011543676.1:c.10777T>A	XP_011541978.1:p.Ser3593Thr
XM_011543677.1:c.8161T>A	XP_011541979.1:p.Ser2721Thr
XM_011543678.1:c.10858T>A	XP_011541980.1:p.Ser3620Thr
XM_011543679.1:c.*80T>A	XP_011541981.1:n.*80T>A
NM_032119.4:c.10858T>A MANE Select	NP_115495.3:p.Ser3620Thr
XM_017009963.2:c.10879T>A	XP_016865452.1:p.Ser3627Thr
XM_017009964.2:c.10876T>A	XP_016865453.1:p.Ser3626Thr
XM_017009965.1:c.10876T>A	XP_016865454.1:p.Ser3626Thr
XM_017009966.2:c.10798T>A	XP_016865455.1:p.Ser3600Thr
XM_017009967.1:c.10783T>A	XP_016865456.1:p.Ser3595Thr
XM_017009968.2:c.10879T>A	XP_016865457.1:p.Ser3627Thr
XM_017009969.2:c.10879T>A	XP_016865458.1:p.Ser3627Thr
XM_017009970.2:c.10879T>A	XP_016865459.1:p.Ser3627Thr
XM_017009971.2:c.10879T>A	XP_016865460.1:p.Ser3627Thr
XM_017009972.1:c.3997T>A	XP_016865461.1:p.Ser1333Thr
XM_017009973.1:c.3976T>A	XP_016865462.1:p.Ser1326Thr
XM_017009974.2:c.*80T>A	XP_016865463.1:n.*80T>A
NR_003149.2:n.10874T>A