Canonical Allele Identifier: CA360414057

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89979804A>C (hg19) ; chr5:g.90683987A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90683987A>C , CM000667.2:g.90683987A>C	GRCh38
NC_000005.9:g.89979804A>C , CM000667.1:g.89979804A>C	GRCh37
NC_000005.8:g.90015560A>C	NCBI36
NG_007083.1:g.130188A>C
NG_007083.2:g.159644A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6066A>C MANE Select	ENSP00000384582.2:p.Glu2022Asp
ENST00000639431.1:c.265+7778A>C	ENSP00000491057.1:n.265+7778A>C
ENST00000639473.1:n.1525A>C
ENST00000640012.1:c.165-1793A>C
ENST00000640403.1:c.3357A>C	ENSP00000492531.1:p.Glu1119Asp
ENST00000640779.1:c.878A>C
ENST00000405460.6:c.6066A>C	ENSP00000384582.2:p.Glu2022Asp
NM_032119.3:c.6066A>C	NP_115495.3:p.Glu2022Asp
NR_003149.1:n.6162A>C
XM_011543675.1:c.6063A>C	XP_011541977.1:p.Glu2021Asp
XM_011543676.1:c.5985A>C	XP_011541978.1:p.Glu1995Asp
XM_011543677.1:c.3369A>C	XP_011541979.1:p.Glu1123Asp
XM_011543678.1:c.6066A>C	XP_011541980.1:p.Glu2022Asp
XM_011543679.1:c.6066A>C	XP_011541981.1:p.Glu2022Asp
NM_032119.4:c.6066A>C MANE Select	NP_115495.3:p.Glu2022Asp
XM_017009963.2:c.6066A>C	XP_016865452.1:p.Glu2022Asp
XM_017009964.2:c.6063A>C	XP_016865453.1:p.Glu2021Asp
XM_017009965.1:c.6063A>C	XP_016865454.1:p.Glu2021Asp
XM_017009966.2:c.5985A>C	XP_016865455.1:p.Glu1995Asp
XM_017009967.1:c.5970A>C	XP_016865456.1:p.Glu1990Asp
XM_017009968.2:c.6066A>C	XP_016865457.1:p.Glu2022Asp
XM_017009969.2:c.6066A>C	XP_016865458.1:p.Glu2022Asp
XM_017009970.2:c.6066A>C	XP_016865459.1:p.Glu2022Asp
XM_017009971.2:c.6066A>C	XP_016865460.1:p.Glu2022Asp
XM_017009973.1:c.-734A>C	XP_016865462.1:n.-734A>C
XM_017009974.2:c.6066A>C	XP_016865463.1:p.Glu2022Asp
NR_003149.2:n.6165A>C