Canonical Allele Identifier: CA360397545

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90716649-G-A
• MyVariant Identifiers: chr5:g.90012466G>A (hg19) ; chr5:g.90716649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716649G>A , CM000667.2:g.90716649G>A	GRCh38
NC_000005.9:g.90012466G>A , CM000667.1:g.90012466G>A	GRCh37
NC_000005.8:g.90048222G>A	NCBI36
NG_007083.1:g.162850G>A
NG_007083.2:g.192306G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9367G>A MANE Select	ENSP00000384582.2:p.Glu3123Lys
ENST00000639431.1:c.265+40440G>A	ENSP00000491057.1:n.265+40440G>A
ENST00000639473.1:n.4826G>A
ENST00000640012.1:c.3174G>A
ENST00000640374.1:n.2511G>A
ENST00000640779.1:c.4096G>A
ENST00000405460.6:c.9367G>A	ENSP00000384582.2:p.Glu3123Lys
ENST00000509621.1:c.2064G>A
NM_032119.3:c.9367G>A	NP_115495.3:p.Glu3123Lys
NR_003149.1:n.9380G>A
XM_011543675.1:c.9364G>A	XP_011541977.1:p.Glu3122Lys
XM_011543676.1:c.9286G>A	XP_011541978.1:p.Glu3096Lys
XM_011543677.1:c.6670G>A	XP_011541979.1:p.Glu2224Lys
XM_011543678.1:c.9367G>A	XP_011541980.1:p.Glu3123Lys
XM_011543679.1:c.9367G>A	XP_011541981.1:p.Glu3123Lys
XR_948560.1:n.272-840C>T
NM_032119.4:c.9367G>A MANE Select	NP_115495.3:p.Glu3123Lys
XM_017009963.2:c.9388G>A	XP_016865452.1:p.Glu3130Lys
XM_017009964.2:c.9385G>A	XP_016865453.1:p.Glu3129Lys
XM_017009965.1:c.9385G>A	XP_016865454.1:p.Glu3129Lys
XM_017009966.2:c.9307G>A	XP_016865455.1:p.Glu3103Lys
XM_017009967.1:c.9292G>A	XP_016865456.1:p.Glu3098Lys
XM_017009968.2:c.9388G>A	XP_016865457.1:p.Glu3130Lys
XM_017009969.2:c.9388G>A	XP_016865458.1:p.Glu3130Lys
XM_017009970.2:c.9388G>A	XP_016865459.1:p.Glu3130Lys
XM_017009971.2:c.9388G>A	XP_016865460.1:p.Glu3130Lys
XM_017009972.1:c.2506G>A	XP_016865461.1:p.Glu836Lys
XM_017009973.1:c.2485G>A	XP_016865462.1:p.Glu829Lys
XM_017009974.2:c.9388G>A	XP_016865463.1:p.Glu3130Lys
XR_001742802.1:n.2523-840C>T
NR_003149.2:n.9383G>A