Canonical Allele Identifier: CA176216

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 163597
• ClinVar RCV Id: RCV000150772 ; RCV000513954 ; RCV001157312
• dbSNP Id: rs13171868
• ExAC: 5:90041574 T / C
• gnomAD v2: 5-90041574-T-C
• gnomAD v3: 5-90745757-T-C
• gnomAD v4: 5-90745757-T-C
• MyVariant Identifiers: chr5:g.90041574T>C (hg19) ; chr5:g.90745757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745757T>C , CM000667.2:g.90745757T>C	GRCh38
NC_000005.9:g.90041574T>C , CM000667.1:g.90041574T>C	GRCh37
NC_000005.8:g.90077330T>C	NCBI36
NG_007083.1:g.191958T>C
NG_007083.2:g.221414T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10936T>C MANE Select	ENSP00000384582.2:p.Ser3646Pro
ENST00000425867.3:c.67T>C	ENSP00000392618.3:p.Ser23Pro
ENST00000639431.1:c.265+69548T>C	ENSP00000491057.1:n.265+69548T>C
ENST00000640374.1:n.4080T>C
ENST00000640464.1:n.1355T>C
ENST00000405460.6:c.10936T>C	ENSP00000384582.2:p.Ser3646Pro
ENST00000509621.1:c.3633T>C
NM_032119.3:c.10936T>C	NP_115495.3:p.Ser3646Pro
NR_003149.1:n.10949T>C
XM_011543675.1:c.10933T>C	XP_011541977.1:p.Ser3645Pro
XM_011543676.1:c.10855T>C	XP_011541978.1:p.Ser3619Pro
XM_011543677.1:c.8239T>C	XP_011541979.1:p.Ser2747Pro
XM_011543678.1:c.10936T>C	XP_011541980.1:p.Ser3646Pro
NM_032119.4:c.10936T>C MANE Select	NP_115495.3:p.Ser3646Pro
XM_017009963.2:c.10957T>C	XP_016865452.1:p.Ser3653Pro
XM_017009964.2:c.10954T>C	XP_016865453.1:p.Ser3652Pro
XM_017009965.1:c.10954T>C	XP_016865454.1:p.Ser3652Pro
XM_017009966.2:c.10876T>C	XP_016865455.1:p.Ser3626Pro
XM_017009967.1:c.10861T>C	XP_016865456.1:p.Ser3621Pro
XM_017009968.2:c.10957T>C	XP_016865457.1:p.Ser3653Pro
XM_017009969.2:c.10957T>C	XP_016865458.1:p.Ser3653Pro
XM_017009970.2:c.10957T>C	XP_016865459.1:p.Ser3653Pro
XM_017009971.2:c.10957T>C	XP_016865460.1:p.Ser3653Pro
XM_017009972.1:c.4075T>C	XP_016865461.1:p.Ser1359Pro
XM_017009973.1:c.4054T>C	XP_016865462.1:p.Ser1352Pro
NR_003149.2:n.10952T>C