Canonical Allele Identifier: CA360396350

Gene: ADGRV1

Linked Data

• dbSNP Id: rs868325775
• gnomAD v2: 5-90008209-C-A
• gnomAD v4: 5-90712392-C-A
• MyVariant Identifiers: chr5:g.90008209C>A (hg19) ; chr5:g.90712392C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712392C>A , CM000667.2:g.90712392C>A	GRCh38
NC_000005.9:g.90008209C>A , CM000667.1:g.90008209C>A	GRCh37
NC_000005.8:g.90043965C>A	NCBI36
NG_007083.1:g.158593C>A
NG_007083.2:g.188049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9148C>A MANE Select	ENSP00000384582.2:p.Pro3050Thr
ENST00000639431.1:c.265+36183C>A	ENSP00000491057.1:n.265+36183C>A
ENST00000639473.1:n.4607C>A
ENST00000640012.1:c.2955C>A
ENST00000640374.1:n.2292C>A
ENST00000640779.1:c.3877C>A
ENST00000405460.6:c.9148C>A	ENSP00000384582.2:p.Pro3050Thr
ENST00000509621.1:c.1845C>A
NM_032119.3:c.9148C>A	NP_115495.3:p.Pro3050Thr
NR_003149.1:n.9161C>A
XM_011543675.1:c.9145C>A	XP_011541977.1:p.Pro3049Thr
XM_011543676.1:c.9067C>A	XP_011541978.1:p.Pro3023Thr
XM_011543677.1:c.6451C>A	XP_011541979.1:p.Pro2151Thr
XM_011543678.1:c.9148C>A	XP_011541980.1:p.Pro3050Thr
XM_011543679.1:c.9148C>A	XP_011541981.1:p.Pro3050Thr
XR_948560.1:n.454G>T
NM_032119.4:c.9148C>A MANE Select	NP_115495.3:p.Pro3050Thr
XM_017009963.2:c.9169C>A	XP_016865452.1:p.Pro3057Thr
XM_017009964.2:c.9166C>A	XP_016865453.1:p.Pro3056Thr
XM_017009965.1:c.9166C>A	XP_016865454.1:p.Pro3056Thr
XM_017009966.2:c.9088C>A	XP_016865455.1:p.Pro3030Thr
XM_017009967.1:c.9073C>A	XP_016865456.1:p.Pro3025Thr
XM_017009968.2:c.9169C>A	XP_016865457.1:p.Pro3057Thr
XM_017009969.2:c.9169C>A	XP_016865458.1:p.Pro3057Thr
XM_017009970.2:c.9169C>A	XP_016865459.1:p.Pro3057Thr
XM_017009971.2:c.9169C>A	XP_016865460.1:p.Pro3057Thr
XM_017009972.1:c.2287C>A	XP_016865461.1:p.Pro763Thr
XM_017009973.1:c.2266C>A	XP_016865462.1:p.Pro756Thr
XM_017009974.2:c.9169C>A	XP_016865463.1:p.Pro3057Thr
NR_003149.2:n.9164C>A