Canonical Allele Identifier: CA360367133

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050952A>T (hg19) ; chr5:g.90755135A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755135A>T , CM000667.2:g.90755135A>T	GRCh38
NC_000005.9:g.90050952A>T , CM000667.1:g.90050952A>T	GRCh37
NC_000005.8:g.90086708A>T	NCBI36
NG_007083.1:g.201336A>T
NG_007083.2:g.230792A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11530A>T MANE Select	ENSP00000384582.2:p.Ile3844Leu
ENST00000425867.3:c.661A>T	ENSP00000392618.3:p.Ile221Leu
ENST00000639431.1:c.265+78926A>T	ENSP00000491057.1:n.265+78926A>T
ENST00000640374.1:n.4674A>T
ENST00000640464.1:n.1949A>T
ENST00000405460.6:c.11530A>T	ENSP00000384582.2:p.Ile3844Leu
ENST00000509621.1:c.4227A>T
NM_032119.3:c.11530A>T	NP_115495.3:p.Ile3844Leu
NR_003149.1:n.11543A>T
XM_011543675.1:c.11527A>T	XP_011541977.1:p.Ile3843Leu
XM_011543676.1:c.11449A>T	XP_011541978.1:p.Ile3817Leu
XM_011543677.1:c.8833A>T	XP_011541979.1:p.Ile2945Leu
XM_011543678.1:c.11530A>T	XP_011541980.1:p.Ile3844Leu
NM_032119.4:c.11530A>T MANE Select	NP_115495.3:p.Ile3844Leu
XM_017009963.2:c.11551A>T	XP_016865452.1:p.Ile3851Leu
XM_017009964.2:c.11548A>T	XP_016865453.1:p.Ile3850Leu
XM_017009965.1:c.11548A>T	XP_016865454.1:p.Ile3850Leu
XM_017009966.2:c.11470A>T	XP_016865455.1:p.Ile3824Leu
XM_017009967.1:c.11455A>T	XP_016865456.1:p.Ile3819Leu
XM_017009968.2:c.11551A>T	XP_016865457.1:p.Ile3851Leu
XM_017009969.2:c.11551A>T	XP_016865458.1:p.Ile3851Leu
XM_017009970.2:c.11551A>T	XP_016865459.1:p.Ile3851Leu
XM_017009971.2:c.11551A>T	XP_016865460.1:p.Ile3851Leu
XM_017009972.1:c.4669A>T	XP_016865461.1:p.Ile1557Leu
XM_017009973.1:c.4648A>T	XP_016865462.1:p.Ile1550Leu
NR_003149.2:n.11546A>T