Canonical Allele Identifier: CA360371332

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988509G>C (hg19) ; chr5:g.90692692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692692G>C , CM000667.2:g.90692692G>C	GRCh38
NC_000005.9:g.89988509G>C , CM000667.1:g.89988509G>C	GRCh37
NC_000005.8:g.90024265G>C	NCBI36
NG_007083.1:g.138893G>C
NG_007083.2:g.168349G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7039G>C MANE Select	ENSP00000384582.2:p.Asp2347His
ENST00000639431.1:c.265+16483G>C	ENSP00000491057.1:n.265+16483G>C
ENST00000639473.1:n.2498G>C
ENST00000640012.1:c.846G>C
ENST00000640374.1:n.183G>C
ENST00000640403.1:c.4330G>C	ENSP00000492531.1:p.Asp1444His
ENST00000640779.1:c.1768G>C
ENST00000405460.6:c.7039G>C	ENSP00000384582.2:p.Asp2347His
NM_032119.3:c.7039G>C	NP_115495.3:p.Asp2347His
NR_003149.1:n.7052G>C
XM_011543675.1:c.7036G>C	XP_011541977.1:p.Asp2346His
XM_011543676.1:c.6958G>C	XP_011541978.1:p.Asp2320His
XM_011543677.1:c.4342G>C	XP_011541979.1:p.Asp1448His
XM_011543678.1:c.7039G>C	XP_011541980.1:p.Asp2347His
XM_011543679.1:c.7039G>C	XP_011541981.1:p.Asp2347His
NM_032119.4:c.7039G>C MANE Select	NP_115495.3:p.Asp2347His
XM_017009963.2:c.7039G>C	XP_016865452.1:p.Asp2347His
XM_017009964.2:c.7036G>C	XP_016865453.1:p.Asp2346His
XM_017009965.1:c.7036G>C	XP_016865454.1:p.Asp2346His
XM_017009966.2:c.6958G>C	XP_016865455.1:p.Asp2320His
XM_017009967.1:c.6943G>C	XP_016865456.1:p.Asp2315His
XM_017009968.2:c.7039G>C	XP_016865457.1:p.Asp2347His
XM_017009969.2:c.7039G>C	XP_016865458.1:p.Asp2347His
XM_017009970.2:c.7039G>C	XP_016865459.1:p.Asp2347His
XM_017009971.2:c.7039G>C	XP_016865460.1:p.Asp2347His
XM_017009972.1:c.157G>C	XP_016865461.1:p.Asp53His
XM_017009973.1:c.157G>C	XP_016865462.1:p.Asp53His
XM_017009974.2:c.7039G>C	XP_016865463.1:p.Asp2347His
NR_003149.2:n.7055G>C