Canonical Allele Identifier: CA172268

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 158645
• ClinVar RCV Id: RCV000146068 ; RCV000710422 ; RCV001151867
• dbSNP Id: rs16869083
• ExAC: 5:90050903 T / C
• gnomAD v2: 5-90050903-T-C
• gnomAD v3: 5-90755086-T-C
• gnomAD v4: 5-90755086-T-C
• MyVariant Identifiers: chr5:g.90050903T>C (hg19) ; chr5:g.90755086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755086T>C , CM000667.2:g.90755086T>C	GRCh38
NC_000005.9:g.90050903T>C , CM000667.1:g.90050903T>C	GRCh37
NC_000005.8:g.90086659T>C	NCBI36
NG_007083.1:g.201287T>C
NG_007083.2:g.230743T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11481T>C MANE Select	ENSP00000384582.2:p.Asp3827=
ENST00000425867.3:c.612T>C	ENSP00000392618.3:p.Asp204=
ENST00000639431.1:c.265+78877T>C	ENSP00000491057.1:n.265+78877T>C
ENST00000640374.1:n.4625T>C
ENST00000640464.1:n.1900T>C
ENST00000405460.6:c.11481T>C	ENSP00000384582.2:p.Asp3827=
ENST00000509621.1:c.4178T>C
NM_032119.3:c.11481T>C	NP_115495.3:p.Asp3827=
NR_003149.1:n.11494T>C
XM_011543675.1:c.11478T>C	XP_011541977.1:p.Asp3826=
XM_011543676.1:c.11400T>C	XP_011541978.1:p.Asp3800=
XM_011543677.1:c.8784T>C	XP_011541979.1:p.Asp2928=
XM_011543678.1:c.11481T>C	XP_011541980.1:p.Asp3827=
NM_032119.4:c.11481T>C MANE Select	NP_115495.3:p.Asp3827=
XM_017009963.2:c.11502T>C	XP_016865452.1:p.Asp3834=
XM_017009964.2:c.11499T>C	XP_016865453.1:p.Asp3833=
XM_017009965.1:c.11499T>C	XP_016865454.1:p.Asp3833=
XM_017009966.2:c.11421T>C	XP_016865455.1:p.Asp3807=
XM_017009967.1:c.11406T>C	XP_016865456.1:p.Asp3802=
XM_017009968.2:c.11502T>C	XP_016865457.1:p.Asp3834=
XM_017009969.2:c.11502T>C	XP_016865458.1:p.Asp3834=
XM_017009970.2:c.11502T>C	XP_016865459.1:p.Asp3834=
XM_017009971.2:c.11502T>C	XP_016865460.1:p.Asp3834=
XM_017009972.1:c.4620T>C	XP_016865461.1:p.Asp1540=
XM_017009973.1:c.4599T>C	XP_016865462.1:p.Asp1533=
NR_003149.2:n.11497T>C