Canonical Allele Identifier: CA122816073

Gene: ADGRV1

Linked Data

• dbSNP Id: rs866992177
• COSMIC: COSM141922
• MyVariant Identifiers: chr5:g.90041427G>A (hg19) ; chr5:g.90745610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745610G>A , CM000667.2:g.90745610G>A	GRCh38
NC_000005.9:g.90041427G>A , CM000667.1:g.90041427G>A	GRCh37
NC_000005.8:g.90077183G>A	NCBI36
NG_007083.1:g.191811G>A
NG_007083.2:g.221267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10789G>A MANE Select	ENSP00000384582.2:p.Glu3597Lys
ENST00000639431.1:c.265+69401G>A	ENSP00000491057.1:n.265+69401G>A
ENST00000640374.1:n.3933G>A
ENST00000640464.1:n.1208G>A
ENST00000405460.6:c.10789G>A	ENSP00000384582.2:p.Glu3597Lys
ENST00000509621.1:c.3486G>A
NM_032119.3:c.10789G>A	NP_115495.3:p.Glu3597Lys
NR_003149.1:n.10802G>A
XM_011543675.1:c.10786G>A	XP_011541977.1:p.Glu3596Lys
XM_011543676.1:c.10708G>A	XP_011541978.1:p.Glu3570Lys
XM_011543677.1:c.8092G>A	XP_011541979.1:p.Glu2698Lys
XM_011543678.1:c.10789G>A	XP_011541980.1:p.Glu3597Lys
XM_011543679.1:c.*11G>A	XP_011541981.1:n.*11G>A
NM_032119.4:c.10789G>A MANE Select	NP_115495.3:p.Glu3597Lys
XM_017009963.2:c.10810G>A	XP_016865452.1:p.Glu3604Lys
XM_017009964.2:c.10807G>A	XP_016865453.1:p.Glu3603Lys
XM_017009965.1:c.10807G>A	XP_016865454.1:p.Glu3603Lys
XM_017009966.2:c.10729G>A	XP_016865455.1:p.Glu3577Lys
XM_017009967.1:c.10714G>A	XP_016865456.1:p.Glu3572Lys
XM_017009968.2:c.10810G>A	XP_016865457.1:p.Glu3604Lys
XM_017009969.2:c.10810G>A	XP_016865458.1:p.Glu3604Lys
XM_017009970.2:c.10810G>A	XP_016865459.1:p.Glu3604Lys
XM_017009971.2:c.10810G>A	XP_016865460.1:p.Glu3604Lys
XM_017009972.1:c.3928G>A	XP_016865461.1:p.Glu1310Lys
XM_017009973.1:c.3907G>A	XP_016865462.1:p.Glu1303Lys
XM_017009974.2:c.*11G>A	XP_016865463.1:n.*11G>A
NR_003149.2:n.10805G>A