Canonical Allele Identifier: CA360377057

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059128A>C (hg19) ; chr5:g.90763311A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763311A>C , CM000667.2:g.90763311A>C	GRCh38
NC_000005.9:g.90059128A>C , CM000667.1:g.90059128A>C	GRCh37
NC_000005.8:g.90094884A>C	NCBI36
NG_007083.1:g.209512A>C
NG_007083.2:g.238968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12127A>C MANE Select	ENSP00000384582.2:p.Ile4043Leu
ENST00000425867.3:c.1081A>C	ENSP00000392618.3:p.Ile361Leu
ENST00000639431.1:c.265+87102A>C	ENSP00000491057.1:n.265+87102A>C
ENST00000640464.1:n.2546A>C
ENST00000640729.1:n.704A>C
ENST00000405460.6:c.12127A>C	ENSP00000384582.2:p.Ile4043Leu
NM_032119.3:c.12127A>C	NP_115495.3:p.Ile4043Leu
NR_003149.1:n.12140A>C
XM_011543675.1:c.12124A>C	XP_011541977.1:p.Ile4042Leu
XM_011543676.1:c.12046A>C	XP_011541978.1:p.Ile4016Leu
XM_011543677.1:c.9430A>C	XP_011541979.1:p.Ile3144Leu
XM_011543678.1:c.12127A>C	XP_011541980.1:p.Ile4043Leu
NM_032119.4:c.12127A>C MANE Select	NP_115495.3:p.Ile4043Leu
XM_017009963.2:c.12148A>C	XP_016865452.1:p.Ile4050Leu
XM_017009964.2:c.12145A>C	XP_016865453.1:p.Ile4049Leu
XM_017009965.1:c.12145A>C	XP_016865454.1:p.Ile4049Leu
XM_017009966.2:c.12067A>C	XP_016865455.1:p.Ile4023Leu
XM_017009967.1:c.12052A>C	XP_016865456.1:p.Ile4018Leu
XM_017009968.2:c.12148A>C	XP_016865457.1:p.Ile4050Leu
XM_017009969.2:c.12148A>C	XP_016865458.1:p.Ile4050Leu
XM_017009970.2:c.12148A>C	XP_016865459.1:p.Ile4050Leu
XM_017009971.2:c.12148A>C	XP_016865460.1:p.Ile4050Leu
XM_017009972.1:c.5266A>C	XP_016865461.1:p.Ile1756Leu
XM_017009973.1:c.5245A>C	XP_016865462.1:p.Ile1749Leu
NR_003149.2:n.12143A>C