Canonical Allele Identifier: CA360397700

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1015462
• ClinVar RCV Id: RCV001314327
• dbSNP Id: rs1750149932
• gnomAD v4: 5-90716692-A-C
• MyVariant Identifiers: chr5:g.90012509A>C (hg19) ; chr5:g.90716692A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716692A>C , CM000667.2:g.90716692A>C	GRCh38
NC_000005.9:g.90012509A>C , CM000667.1:g.90012509A>C	GRCh37
NC_000005.8:g.90048265A>C	NCBI36
NG_007083.1:g.162893A>C
NG_007083.2:g.192349A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9410A>C MANE Select	ENSP00000384582.2:p.Lys3137Thr
ENST00000639431.1:c.265+40483A>C	ENSP00000491057.1:n.265+40483A>C
ENST00000639473.1:n.4869A>C
ENST00000640012.1:c.3217A>C
ENST00000640374.1:n.2554A>C
ENST00000640779.1:c.4139A>C
ENST00000405460.6:c.9410A>C	ENSP00000384582.2:p.Lys3137Thr
ENST00000509621.1:c.2107A>C
NM_032119.3:c.9410A>C	NP_115495.3:p.Lys3137Thr
NR_003149.1:n.9423A>C
XM_011543675.1:c.9407A>C	XP_011541977.1:p.Lys3136Thr
XM_011543676.1:c.9329A>C	XP_011541978.1:p.Lys3110Thr
XM_011543677.1:c.6713A>C	XP_011541979.1:p.Lys2238Thr
XM_011543678.1:c.9410A>C	XP_011541980.1:p.Lys3137Thr
XM_011543679.1:c.9410A>C	XP_011541981.1:p.Lys3137Thr
XR_948560.1:n.272-883T>G
NM_032119.4:c.9410A>C MANE Select	NP_115495.3:p.Lys3137Thr
XM_017009963.2:c.9431A>C	XP_016865452.1:p.Lys3144Thr
XM_017009964.2:c.9428A>C	XP_016865453.1:p.Lys3143Thr
XM_017009965.1:c.9428A>C	XP_016865454.1:p.Lys3143Thr
XM_017009966.2:c.9350A>C	XP_016865455.1:p.Lys3117Thr
XM_017009967.1:c.9335A>C	XP_016865456.1:p.Lys3112Thr
XM_017009968.2:c.9431A>C	XP_016865457.1:p.Lys3144Thr
XM_017009969.2:c.9431A>C	XP_016865458.1:p.Lys3144Thr
XM_017009970.2:c.9431A>C	XP_016865459.1:p.Lys3144Thr
XM_017009971.2:c.9431A>C	XP_016865460.1:p.Lys3144Thr
XM_017009972.1:c.2549A>C	XP_016865461.1:p.Lys850Thr
XM_017009973.1:c.2528A>C	XP_016865462.1:p.Lys843Thr
XM_017009974.2:c.9431A>C	XP_016865463.1:p.Lys3144Thr
XR_001742802.1:n.2523-883T>G
NR_003149.2:n.9426A>C