Canonical Allele Identifier: CA360366730

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050893T>A (hg19) ; chr5:g.90755076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755076T>A , CM000667.2:g.90755076T>A	GRCh38
NC_000005.9:g.90050893T>A , CM000667.1:g.90050893T>A	GRCh37
NC_000005.8:g.90086649T>A	NCBI36
NG_007083.1:g.201277T>A
NG_007083.2:g.230733T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11471T>A MANE Select	ENSP00000384582.2:p.Leu3824Gln
ENST00000425867.3:c.602T>A	ENSP00000392618.3:p.Leu201Gln
ENST00000639431.1:c.265+78867T>A	ENSP00000491057.1:n.265+78867T>A
ENST00000640374.1:n.4615T>A
ENST00000640464.1:n.1890T>A
ENST00000405460.6:c.11471T>A	ENSP00000384582.2:p.Leu3824Gln
ENST00000509621.1:c.4168T>A
NM_032119.3:c.11471T>A	NP_115495.3:p.Leu3824Gln
NR_003149.1:n.11484T>A
XM_011543675.1:c.11468T>A	XP_011541977.1:p.Leu3823Gln
XM_011543676.1:c.11390T>A	XP_011541978.1:p.Leu3797Gln
XM_011543677.1:c.8774T>A	XP_011541979.1:p.Leu2925Gln
XM_011543678.1:c.11471T>A	XP_011541980.1:p.Leu3824Gln
NM_032119.4:c.11471T>A MANE Select	NP_115495.3:p.Leu3824Gln
XM_017009963.2:c.11492T>A	XP_016865452.1:p.Leu3831Gln
XM_017009964.2:c.11489T>A	XP_016865453.1:p.Leu3830Gln
XM_017009965.1:c.11489T>A	XP_016865454.1:p.Leu3830Gln
XM_017009966.2:c.11411T>A	XP_016865455.1:p.Leu3804Gln
XM_017009967.1:c.11396T>A	XP_016865456.1:p.Leu3799Gln
XM_017009968.2:c.11492T>A	XP_016865457.1:p.Leu3831Gln
XM_017009969.2:c.11492T>A	XP_016865458.1:p.Leu3831Gln
XM_017009970.2:c.11492T>A	XP_016865459.1:p.Leu3831Gln
XM_017009971.2:c.11492T>A	XP_016865460.1:p.Leu3831Gln
XM_017009972.1:c.4610T>A	XP_016865461.1:p.Leu1537Gln
XM_017009973.1:c.4589T>A	XP_016865462.1:p.Leu1530Gln
NR_003149.2:n.11487T>A