Canonical Allele Identifier: CA360370815

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1039354
• ClinVar RCV Id: RCV001342810
• dbSNP Id: rs1241202157
• gnomAD v2: 5-89988449-T-C
• gnomAD v3: 5-90692632-T-C
• gnomAD v4: 5-90692632-T-C
• MyVariant Identifiers: chr5:g.89988449T>C (hg19) ; chr5:g.90692632T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692632T>C , CM000667.2:g.90692632T>C	GRCh38
NC_000005.9:g.89988449T>C , CM000667.1:g.89988449T>C	GRCh37
NC_000005.8:g.90024205T>C	NCBI36
NG_007083.1:g.138833T>C
NG_007083.2:g.168289T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6979T>C MANE Select	ENSP00000384582.2:p.Ser2327Pro
ENST00000639431.1:c.265+16423T>C	ENSP00000491057.1:n.265+16423T>C
ENST00000639473.1:n.2438T>C
ENST00000640012.1:c.786T>C
ENST00000640374.1:n.123T>C
ENST00000640403.1:c.4270T>C	ENSP00000492531.1:p.Ser1424Pro
ENST00000640779.1:c.1708T>C
ENST00000405460.6:c.6979T>C	ENSP00000384582.2:p.Ser2327Pro
NM_032119.3:c.6979T>C	NP_115495.3:p.Ser2327Pro
NR_003149.1:n.6992T>C
XM_011543675.1:c.6976T>C	XP_011541977.1:p.Ser2326Pro
XM_011543676.1:c.6898T>C	XP_011541978.1:p.Ser2300Pro
XM_011543677.1:c.4282T>C	XP_011541979.1:p.Ser1428Pro
XM_011543678.1:c.6979T>C	XP_011541980.1:p.Ser2327Pro
XM_011543679.1:c.6979T>C	XP_011541981.1:p.Ser2327Pro
NM_032119.4:c.6979T>C MANE Select	NP_115495.3:p.Ser2327Pro
XM_017009963.2:c.6979T>C	XP_016865452.1:p.Ser2327Pro
XM_017009964.2:c.6976T>C	XP_016865453.1:p.Ser2326Pro
XM_017009965.1:c.6976T>C	XP_016865454.1:p.Ser2326Pro
XM_017009966.2:c.6898T>C	XP_016865455.1:p.Ser2300Pro
XM_017009967.1:c.6883T>C	XP_016865456.1:p.Ser2295Pro
XM_017009968.2:c.6979T>C	XP_016865457.1:p.Ser2327Pro
XM_017009969.2:c.6979T>C	XP_016865458.1:p.Ser2327Pro
XM_017009970.2:c.6979T>C	XP_016865459.1:p.Ser2327Pro
XM_017009971.2:c.6979T>C	XP_016865460.1:p.Ser2327Pro
XM_017009972.1:c.97T>C	XP_016865461.1:p.Ser33Pro
XM_017009973.1:c.97T>C	XP_016865462.1:p.Ser33Pro
XM_017009974.2:c.6979T>C	XP_016865463.1:p.Ser2327Pro
NR_003149.2:n.6995T>C