Canonical Allele Identifier: CA360408811

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041419T>A (hg19) ; chr5:g.90745602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745602T>A , CM000667.2:g.90745602T>A	GRCh38
NC_000005.9:g.90041419T>A , CM000667.1:g.90041419T>A	GRCh37
NC_000005.8:g.90077175T>A	NCBI36
NG_007083.1:g.191803T>A
NG_007083.2:g.221259T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10781T>A MANE Select	ENSP00000384582.2:p.Leu3594Gln
ENST00000639431.1:c.265+69393T>A	ENSP00000491057.1:n.265+69393T>A
ENST00000640374.1:n.3925T>A
ENST00000640464.1:n.1200T>A
ENST00000405460.6:c.10781T>A	ENSP00000384582.2:p.Leu3594Gln
ENST00000509621.1:c.3478T>A
NM_032119.3:c.10781T>A	NP_115495.3:p.Leu3594Gln
NR_003149.1:n.10794T>A
XM_011543675.1:c.10778T>A	XP_011541977.1:p.Leu3593Gln
XM_011543676.1:c.10700T>A	XP_011541978.1:p.Leu3567Gln
XM_011543677.1:c.8084T>A	XP_011541979.1:p.Leu2695Gln
XM_011543678.1:c.10781T>A	XP_011541980.1:p.Leu3594Gln
XM_011543679.1:c.*3T>A	XP_011541981.1:n.*3T>A
NM_032119.4:c.10781T>A MANE Select	NP_115495.3:p.Leu3594Gln
XM_017009963.2:c.10802T>A	XP_016865452.1:p.Leu3601Gln
XM_017009964.2:c.10799T>A	XP_016865453.1:p.Leu3600Gln
XM_017009965.1:c.10799T>A	XP_016865454.1:p.Leu3600Gln
XM_017009966.2:c.10721T>A	XP_016865455.1:p.Leu3574Gln
XM_017009967.1:c.10706T>A	XP_016865456.1:p.Leu3569Gln
XM_017009968.2:c.10802T>A	XP_016865457.1:p.Leu3601Gln
XM_017009969.2:c.10802T>A	XP_016865458.1:p.Leu3601Gln
XM_017009970.2:c.10802T>A	XP_016865459.1:p.Leu3601Gln
XM_017009971.2:c.10802T>A	XP_016865460.1:p.Leu3601Gln
XM_017009972.1:c.3920T>A	XP_016865461.1:p.Leu1307Gln
XM_017009973.1:c.3899T>A	XP_016865462.1:p.Leu1300Gln
XM_017009974.2:c.*3T>A	XP_016865463.1:n.*3T>A
NR_003149.2:n.10797T>A