Canonical Allele Identifier: CA137987

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 46246
• ClinVar RCV Id: RCV000039502 ; RCV000724542 ; RCV001152997
• dbSNP Id: rs113938044
• ExAC: 5:90024584 C / T
• gnomAD v2: 5-90024584-C-T
• gnomAD v3: 5-90728767-C-T
• gnomAD v4: 5-90728767-C-T
• MyVariant Identifiers: chr5:g.90024584C>T (hg19) ; chr5:g.90728767C>T (hg38)
• PubMed: PMID:22135276

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90728767C>T , CM000667.2:g.90728767C>T	GRCh38
NC_000005.9:g.90024584C>T , CM000667.1:g.90024584C>T	GRCh37
NC_000005.8:g.90060340C>T	NCBI36
NG_007083.1:g.174968C>T
NG_007083.2:g.204424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10260C>T MANE Select	ENSP00000384582.2:p.Phe3420=
ENST00000639431.1:c.265+52558C>T	ENSP00000491057.1:n.265+52558C>T
ENST00000640374.1:n.3404C>T
ENST00000640464.1:n.679C>T
ENST00000405460.6:c.10260C>T	ENSP00000384582.2:p.Phe3420=
ENST00000509621.1:c.2957C>T
NM_032119.3:c.10260C>T	NP_115495.3:p.Phe3420=
NR_003149.1:n.10273C>T
XM_011543675.1:c.10257C>T	XP_011541977.1:p.Phe3419=
XM_011543676.1:c.10179C>T	XP_011541978.1:p.Phe3393=
XM_011543677.1:c.7563C>T	XP_011541979.1:p.Phe2521=
XM_011543678.1:c.10260C>T	XP_011541980.1:p.Phe3420=
XM_011543679.1:c.10260C>T	XP_011541981.1:p.Phe3420=
XR_948560.1:n.271+12140G>A
NM_032119.4:c.10260C>T MANE Select	NP_115495.3:p.Phe3420=
XM_017009963.2:c.10281C>T	XP_016865452.1:p.Phe3427=
XM_017009964.2:c.10278C>T	XP_016865453.1:p.Phe3426=
XM_017009965.1:c.10278C>T	XP_016865454.1:p.Phe3426=
XM_017009966.2:c.10200C>T	XP_016865455.1:p.Phe3400=
XM_017009967.1:c.10185C>T	XP_016865456.1:p.Phe3395=
XM_017009968.2:c.10281C>T	XP_016865457.1:p.Phe3427=
XM_017009969.2:c.10281C>T	XP_016865458.1:p.Phe3427=
XM_017009970.2:c.10281C>T	XP_016865459.1:p.Phe3427=
XM_017009971.2:c.10281C>T	XP_016865460.1:p.Phe3427=
XM_017009972.1:c.3399C>T	XP_016865461.1:p.Phe1133=
XM_017009973.1:c.3378C>T	XP_016865462.1:p.Phe1126=
XM_017009974.2:c.10281C>T	XP_016865463.1:p.Phe3427=
XR_001742802.1:n.2522+12140G>A
NR_003149.2:n.10276C>T