Canonical Allele Identifier: CA3341170

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2732473
• ClinVar RCV Id: RCV003559836
• dbSNP Id: rs199990205
• ExAC: 5:90059192 C / T
• gnomAD v2: 5-90059192-C-T
• gnomAD v3: 5-90763375-C-T
• gnomAD v4: 5-90763375-C-T
• MyVariant Identifiers: chr5:g.90059192C>T (hg19) ; chr5:g.90763375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763375C>T , CM000667.2:g.90763375C>T	GRCh38
NC_000005.9:g.90059192C>T , CM000667.1:g.90059192C>T	GRCh37
NC_000005.8:g.90094948C>T	NCBI36
NG_007083.1:g.209576C>T
NG_007083.2:g.239032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12191C>T MANE Select	ENSP00000384582.2:p.Pro4064Leu
ENST00000425867.3:c.1145C>T	ENSP00000392618.3:p.Pro382Leu
ENST00000639431.1:c.265+87166C>T	ENSP00000491057.1:n.265+87166C>T
ENST00000640464.1:n.2610C>T
ENST00000640729.1:n.768C>T
ENST00000405460.6:c.12191C>T	ENSP00000384582.2:p.Pro4064Leu
NM_032119.3:c.12191C>T	NP_115495.3:p.Pro4064Leu
NR_003149.1:n.12204C>T
XM_011543675.1:c.12188C>T	XP_011541977.1:p.Pro4063Leu
XM_011543676.1:c.12110C>T	XP_011541978.1:p.Pro4037Leu
XM_011543677.1:c.9494C>T	XP_011541979.1:p.Pro3165Leu
XM_011543678.1:c.12191C>T	XP_011541980.1:p.Pro4064Leu
NM_032119.4:c.12191C>T MANE Select	NP_115495.3:p.Pro4064Leu
XM_017009963.2:c.12212C>T	XP_016865452.1:p.Pro4071Leu
XM_017009964.2:c.12209C>T	XP_016865453.1:p.Pro4070Leu
XM_017009965.1:c.12209C>T	XP_016865454.1:p.Pro4070Leu
XM_017009966.2:c.12131C>T	XP_016865455.1:p.Pro4044Leu
XM_017009967.1:c.12116C>T	XP_016865456.1:p.Pro4039Leu
XM_017009968.2:c.12212C>T	XP_016865457.1:p.Pro4071Leu
XM_017009969.2:c.12212C>T	XP_016865458.1:p.Pro4071Leu
XM_017009970.2:c.12212C>T	XP_016865459.1:p.Pro4071Leu
XM_017009971.2:c.12212C>T	XP_016865460.1:p.Pro4071Leu
XM_017009972.1:c.5330C>T	XP_016865461.1:p.Pro1777Leu
XM_017009973.1:c.5309C>T	XP_016865462.1:p.Pro1770Leu
NR_003149.2:n.12207C>T