Canonical Allele Identifier: CA360408854

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041429A>C (hg19) ; chr5:g.90745612A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745612A>C , CM000667.2:g.90745612A>C	GRCh38
NC_000005.9:g.90041429A>C , CM000667.1:g.90041429A>C	GRCh37
NC_000005.8:g.90077185A>C	NCBI36
NG_007083.1:g.191813A>C
NG_007083.2:g.221269A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10791A>C MANE Select	ENSP00000384582.2:p.Glu3597Asp
ENST00000639431.1:c.265+69403A>C	ENSP00000491057.1:n.265+69403A>C
ENST00000640374.1:n.3935A>C
ENST00000640464.1:n.1210A>C
ENST00000405460.6:c.10791A>C	ENSP00000384582.2:p.Glu3597Asp
ENST00000509621.1:c.3488A>C
NM_032119.3:c.10791A>C	NP_115495.3:p.Glu3597Asp
NR_003149.1:n.10804A>C
XM_011543675.1:c.10788A>C	XP_011541977.1:p.Glu3596Asp
XM_011543676.1:c.10710A>C	XP_011541978.1:p.Glu3570Asp
XM_011543677.1:c.8094A>C	XP_011541979.1:p.Glu2698Asp
XM_011543678.1:c.10791A>C	XP_011541980.1:p.Glu3597Asp
XM_011543679.1:c.*13A>C	XP_011541981.1:n.*13A>C
NM_032119.4:c.10791A>C MANE Select	NP_115495.3:p.Glu3597Asp
XM_017009963.2:c.10812A>C	XP_016865452.1:p.Glu3604Asp
XM_017009964.2:c.10809A>C	XP_016865453.1:p.Glu3603Asp
XM_017009965.1:c.10809A>C	XP_016865454.1:p.Glu3603Asp
XM_017009966.2:c.10731A>C	XP_016865455.1:p.Glu3577Asp
XM_017009967.1:c.10716A>C	XP_016865456.1:p.Glu3572Asp
XM_017009968.2:c.10812A>C	XP_016865457.1:p.Glu3604Asp
XM_017009969.2:c.10812A>C	XP_016865458.1:p.Glu3604Asp
XM_017009970.2:c.10812A>C	XP_016865459.1:p.Glu3604Asp
XM_017009971.2:c.10812A>C	XP_016865460.1:p.Glu3604Asp
XM_017009972.1:c.3930A>C	XP_016865461.1:p.Glu1310Asp
XM_017009973.1:c.3909A>C	XP_016865462.1:p.Glu1303Asp
XM_017009974.2:c.*13A>C	XP_016865463.1:n.*13A>C
NR_003149.2:n.10807A>C