Canonical Allele Identifier: CA176206

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 163589
• ClinVar RCV Id: RCV000150767 ; RCV000728496 ; RCV001151753
• dbSNP Id: rs201089046
• ExAC: 5:90015975 C / T
• gnomAD v2: 5-90015975-C-T
• gnomAD v3: 5-90720158-C-T
• gnomAD v4: 5-90720158-C-T
• MyVariant Identifiers: chr5:g.90015975C>T (hg19) ; chr5:g.90720158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90720158C>T , CM000667.2:g.90720158C>T	GRCh38
NC_000005.9:g.90015975C>T , CM000667.1:g.90015975C>T	GRCh37
NC_000005.8:g.90051731C>T	NCBI36
NG_007083.1:g.166359C>T
NG_007083.2:g.195815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9558C>T MANE Select	ENSP00000384582.2:p.Thr3186=
ENST00000639431.1:c.265+43949C>T	ENSP00000491057.1:n.265+43949C>T
ENST00000640374.1:n.2702C>T
ENST00000640779.1:c.4287C>T
ENST00000405460.6:c.9558C>T	ENSP00000384582.2:p.Thr3186=
ENST00000509621.1:c.2255C>T
NM_032119.3:c.9558C>T	NP_115495.3:p.Thr3186=
NR_003149.1:n.9571C>T
XM_011543675.1:c.9555C>T	XP_011541977.1:p.Thr3185=
XM_011543676.1:c.9477C>T	XP_011541978.1:p.Thr3159=
XM_011543677.1:c.6861C>T	XP_011541979.1:p.Thr2287=
XM_011543678.1:c.9558C>T	XP_011541980.1:p.Thr3186=
XM_011543679.1:c.9558C>T	XP_011541981.1:p.Thr3186=
XR_948560.1:n.272-4349G>A
NM_032119.4:c.9558C>T MANE Select	NP_115495.3:p.Thr3186=
XM_017009963.2:c.9579C>T	XP_016865452.1:p.Thr3193=
XM_017009964.2:c.9576C>T	XP_016865453.1:p.Thr3192=
XM_017009965.1:c.9576C>T	XP_016865454.1:p.Thr3192=
XM_017009966.2:c.9498C>T	XP_016865455.1:p.Thr3166=
XM_017009967.1:c.9483C>T	XP_016865456.1:p.Thr3161=
XM_017009968.2:c.9579C>T	XP_016865457.1:p.Thr3193=
XM_017009969.2:c.9579C>T	XP_016865458.1:p.Thr3193=
XM_017009970.2:c.9579C>T	XP_016865459.1:p.Thr3193=
XM_017009971.2:c.9579C>T	XP_016865460.1:p.Thr3193=
XM_017009972.1:c.2697C>T	XP_016865461.1:p.Thr899=
XM_017009973.1:c.2676C>T	XP_016865462.1:p.Thr892=
XM_017009974.2:c.9579C>T	XP_016865463.1:p.Thr3193=
XR_001742802.1:n.2523-4349G>A
NR_003149.2:n.9574C>T