Canonical Allele Identifier: CA3341180

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1024432
• ClinVar RCV Id: RCV001324611
• dbSNP Id: rs374508410
• ExAC: 5:90059245 C / T
• gnomAD v2: 5-90059245-C-T
• MyVariant Identifiers: chr5:g.90059245C>T (hg19) ; chr5:g.90763428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763428C>T , CM000667.2:g.90763428C>T	GRCh38
NC_000005.9:g.90059245C>T , CM000667.1:g.90059245C>T	GRCh37
NC_000005.8:g.90095001C>T	NCBI36
NG_007083.1:g.209629C>T
NG_007083.2:g.239085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12244C>T MANE Select	ENSP00000384582.2:p.His4082Tyr
ENST00000425867.3:c.1198C>T	ENSP00000392618.3:p.His400Tyr
ENST00000639431.1:c.265+87219C>T	ENSP00000491057.1:n.265+87219C>T
ENST00000640464.1:n.2663C>T
ENST00000640729.1:n.821C>T
ENST00000405460.6:c.12244C>T	ENSP00000384582.2:p.His4082Tyr
NM_032119.3:c.12244C>T	NP_115495.3:p.His4082Tyr
NR_003149.1:n.12257C>T
XM_011543675.1:c.12241C>T	XP_011541977.1:p.His4081Tyr
XM_011543676.1:c.12163C>T	XP_011541978.1:p.His4055Tyr
XM_011543677.1:c.9547C>T	XP_011541979.1:p.His3183Tyr
XM_011543678.1:c.12244C>T	XP_011541980.1:p.His4082Tyr
NM_032119.4:c.12244C>T MANE Select	NP_115495.3:p.His4082Tyr
XM_017009963.2:c.12265C>T	XP_016865452.1:p.His4089Tyr
XM_017009964.2:c.12262C>T	XP_016865453.1:p.His4088Tyr
XM_017009965.1:c.12262C>T	XP_016865454.1:p.His4088Tyr
XM_017009966.2:c.12184C>T	XP_016865455.1:p.His4062Tyr
XM_017009967.1:c.12169C>T	XP_016865456.1:p.His4057Tyr
XM_017009968.2:c.12265C>T	XP_016865457.1:p.His4089Tyr
XM_017009969.2:c.12265C>T	XP_016865458.1:p.His4089Tyr
XM_017009970.2:c.12265C>T	XP_016865459.1:p.His4089Tyr
XM_017009971.2:c.12265C>T	XP_016865460.1:p.His4089Tyr
XM_017009972.1:c.5383C>T	XP_016865461.1:p.His1795Tyr
XM_017009973.1:c.5362C>T	XP_016865462.1:p.His1788Tyr
NR_003149.2:n.12260C>T