Canonical Allele Identifier: CA360366314

Gene: ADGRV1

Linked Data

• dbSNP Id: rs2149973116
• MyVariant Identifiers: chr5:g.90050826A>C (hg19) ; chr5:g.90755009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755009A>C , CM000667.2:g.90755009A>C	GRCh38
NC_000005.9:g.90050826A>C , CM000667.1:g.90050826A>C	GRCh37
NC_000005.8:g.90086582A>C	NCBI36
NG_007083.1:g.201210A>C
NG_007083.2:g.230666A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11404A>C MANE Select	ENSP00000384582.2:p.Ile3802Leu
ENST00000425867.3:c.535A>C	ENSP00000392618.3:p.Ile179Leu
ENST00000639431.1:c.265+78800A>C	ENSP00000491057.1:n.265+78800A>C
ENST00000640374.1:n.4548A>C
ENST00000640464.1:n.1823A>C
ENST00000405460.6:c.11404A>C	ENSP00000384582.2:p.Ile3802Leu
ENST00000509621.1:c.4101A>C
NM_032119.3:c.11404A>C	NP_115495.3:p.Ile3802Leu
NR_003149.1:n.11417A>C
XM_011543675.1:c.11401A>C	XP_011541977.1:p.Ile3801Leu
XM_011543676.1:c.11323A>C	XP_011541978.1:p.Ile3775Leu
XM_011543677.1:c.8707A>C	XP_011541979.1:p.Ile2903Leu
XM_011543678.1:c.11404A>C	XP_011541980.1:p.Ile3802Leu
NM_032119.4:c.11404A>C MANE Select	NP_115495.3:p.Ile3802Leu
XM_017009963.2:c.11425A>C	XP_016865452.1:p.Ile3809Leu
XM_017009964.2:c.11422A>C	XP_016865453.1:p.Ile3808Leu
XM_017009965.1:c.11422A>C	XP_016865454.1:p.Ile3808Leu
XM_017009966.2:c.11344A>C	XP_016865455.1:p.Ile3782Leu
XM_017009967.1:c.11329A>C	XP_016865456.1:p.Ile3777Leu
XM_017009968.2:c.11425A>C	XP_016865457.1:p.Ile3809Leu
XM_017009969.2:c.11425A>C	XP_016865458.1:p.Ile3809Leu
XM_017009970.2:c.11425A>C	XP_016865459.1:p.Ile3809Leu
XM_017009971.2:c.11425A>C	XP_016865460.1:p.Ile3809Leu
XM_017009972.1:c.4543A>C	XP_016865461.1:p.Ile1515Leu
XM_017009973.1:c.4522A>C	XP_016865462.1:p.Ile1508Leu
NR_003149.2:n.11420A>C