Canonical Allele Identifier: CA3341159

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 809777
• ClinVar RCV Id: RCV000998407
• dbSNP Id: rs778537428
• ExAC: 5:90059126 T / C
• gnomAD v2: 5-90059126-T-C
• gnomAD v4: 5-90763309-T-C
• MyVariant Identifiers: chr5:g.90059126T>C (hg19) ; chr5:g.90763309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763309T>C , CM000667.2:g.90763309T>C	GRCh38
NC_000005.9:g.90059126T>C , CM000667.1:g.90059126T>C	GRCh37
NC_000005.8:g.90094882T>C	NCBI36
NG_007083.1:g.209510T>C
NG_007083.2:g.238966T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12125T>C MANE Select	ENSP00000384582.2:p.Met4042Thr
ENST00000425867.3:c.1079T>C	ENSP00000392618.3:p.Met360Thr
ENST00000639431.1:c.265+87100T>C	ENSP00000491057.1:n.265+87100T>C
ENST00000640464.1:n.2544T>C
ENST00000640729.1:n.702T>C
ENST00000405460.6:c.12125T>C	ENSP00000384582.2:p.Met4042Thr
NM_032119.3:c.12125T>C	NP_115495.3:p.Met4042Thr
NR_003149.1:n.12138T>C
XM_011543675.1:c.12122T>C	XP_011541977.1:p.Met4041Thr
XM_011543676.1:c.12044T>C	XP_011541978.1:p.Met4015Thr
XM_011543677.1:c.9428T>C	XP_011541979.1:p.Met3143Thr
XM_011543678.1:c.12125T>C	XP_011541980.1:p.Met4042Thr
NM_032119.4:c.12125T>C MANE Select	NP_115495.3:p.Met4042Thr
XM_017009963.2:c.12146T>C	XP_016865452.1:p.Met4049Thr
XM_017009964.2:c.12143T>C	XP_016865453.1:p.Met4048Thr
XM_017009965.1:c.12143T>C	XP_016865454.1:p.Met4048Thr
XM_017009966.2:c.12065T>C	XP_016865455.1:p.Met4022Thr
XM_017009967.1:c.12050T>C	XP_016865456.1:p.Met4017Thr
XM_017009968.2:c.12146T>C	XP_016865457.1:p.Met4049Thr
XM_017009969.2:c.12146T>C	XP_016865458.1:p.Met4049Thr
XM_017009970.2:c.12146T>C	XP_016865459.1:p.Met4049Thr
XM_017009971.2:c.12146T>C	XP_016865460.1:p.Met4049Thr
XM_017009972.1:c.5264T>C	XP_016865461.1:p.Met1755Thr
XM_017009973.1:c.5243T>C	XP_016865462.1:p.Met1748Thr
NR_003149.2:n.12141T>C