Canonical Allele Identifier: CA3342672

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 505692
• ClinVar RCV Id: RCV000608113 ; RCV001152270 ; RCV001397560
• dbSNP Id: rs752223599
• ExAC: 5:90445933 G / T
• gnomAD v2: 5-90445933-G-T
• gnomAD v3: 5-91150116-G-T
• gnomAD v4: 5-91150116-G-T
• MyVariant Identifiers: chr5:g.90445933G>T (hg19) ; chr5:g.91150116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.91150116G>T , CM000667.2:g.91150116G>T	GRCh38
NC_000005.9:g.90445933G>T , CM000667.1:g.90445933G>T	GRCh37
NC_000005.8:g.90481689G>T	NCBI36
NG_007083.1:g.596317G>T
NG_007083.2:g.625773G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.18519G>T MANE Select	ENSP00000384582.2:p.Gly6173=
ENST00000425867.3:c.7473G>T	ENSP00000392618.3:p.Gly2491=
ENST00000638510.1:n.5786G>T
ENST00000638990.1:c.1731G>T
ENST00000639212.1:n.439G>T
ENST00000639530.1:n.387G>T
ENST00000639821.1:c.517-13666G>T	ENSP00000492216.1:n.517-13666G>T
ENST00000640256.1:n.301-3105G>T
ENST00000640407.1:c.4968G>T	ENSP00000491425.1:n.4968G>T
ENST00000640815.1:c.603G>T	ENSP00000491767.1:p.Gly201=
ENST00000405460.6:c.18519G>T	ENSP00000384582.2:p.Gly6173=
ENST00000425867.2:c.5502G>T	ENSP00000392618.2:p.Gly1834=
NM_032119.3:c.18519G>T	NP_115495.3:p.Gly6173=
NR_003149.1:n.18532G>T
XM_011543675.1:c.18516G>T	XP_011541977.1:p.Gly6172=
XM_011543676.1:c.18438G>T	XP_011541978.1:p.Gly6146=
XM_011543677.1:c.15822G>T	XP_011541979.1:p.Gly5274=
NM_032119.4:c.18519G>T MANE Select	NP_115495.3:p.Gly6173=
XM_017009963.2:c.18540G>T	XP_016865452.1:p.Gly6180=
XM_017009964.2:c.18537G>T	XP_016865453.1:p.Gly6179=
XM_017009965.1:c.18537G>T	XP_016865454.1:p.Gly6179=
XM_017009966.2:c.18459G>T	XP_016865455.1:p.Gly6153=
XM_017009967.1:c.18444G>T	XP_016865456.1:p.Gly6148=
XM_017009968.2:c.18360G>T	XP_016865457.1:p.Gly6120=
XM_017009969.2:c.18454-13666G>T	XP_016865458.1:n.18454-13666G>T
XM_017009972.1:c.11658G>T	XP_016865461.1:p.Gly3886=
XM_017009973.1:c.11637G>T	XP_016865462.1:p.Gly3879=
XR_001742796.1:n.225-14122C>A
NR_003149.2:n.18535G>T