Canonical Allele Identifier: CA138055

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46284
• ClinVar RCV Id: RCV000039540 ; RCV000710435 ; RCV001157632
• dbSNP Id: rs3763073
• ExAC: 5:90119293 C / T
• gnomAD v2: 5-90119293-C-T
• gnomAD v3: 5-90823476-C-T
• gnomAD v4: 5-90823476-C-T
• MyVariant Identifiers: chr5:g.90119293C>T (hg19) ; chr5:g.90823476C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823476C>T , CM000667.2:g.90823476C>T	GRCh38
NC_000005.9:g.90119293C>T , CM000667.1:g.90119293C>T	GRCh37
NC_000005.8:g.90155049C>T	NCBI36
NG_007083.1:g.269677C>T
NG_007083.2:g.299133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16248C>T MANE Select	ENSP00000384582.2:p.Val5416=
ENST00000425867.3:c.5202C>T	ENSP00000392618.3:p.Val1734=
ENST00000638510.1:n.3515C>T
ENST00000639431.1:c.265+147267C>T	ENSP00000491057.1:n.265+147267C>T
ENST00000640061.1:n.128+1294C>T
ENST00000640407.1:c.2658C>T	ENSP00000491425.1:p.Val886=
ENST00000405460.6:c.16248C>T	ENSP00000384582.2:p.Val5416=
ENST00000425867.2:c.3231C>T	ENSP00000392618.2:p.Val1077=
NM_032119.3:c.16248C>T	NP_115495.3:p.Val5416=
NR_003149.1:n.16261C>T
XM_011543675.1:c.16245C>T	XP_011541977.1:p.Val5415=
XM_011543676.1:c.16167C>T	XP_011541978.1:p.Val5389=
XM_011543677.1:c.13551C>T	XP_011541979.1:p.Val4517=
NM_032119.4:c.16248C>T MANE Select	NP_115495.3:p.Val5416=
XM_017009963.2:c.16269C>T	XP_016865452.1:p.Val5423=
XM_017009964.2:c.16266C>T	XP_016865453.1:p.Val5422=
XM_017009965.1:c.16266C>T	XP_016865454.1:p.Val5422=
XM_017009966.2:c.16188C>T	XP_016865455.1:p.Val5396=
XM_017009967.1:c.16173C>T	XP_016865456.1:p.Val5391=
XM_017009968.2:c.16089C>T	XP_016865457.1:p.Val5363=
XM_017009969.2:c.16269C>T	XP_016865458.1:p.Val5423=
XM_017009972.1:c.9387C>T	XP_016865461.1:p.Val3129=
XM_017009973.1:c.9366C>T	XP_016865462.1:p.Val3122=
NR_003149.2:n.16264C>T