Canonical Allele Identifier: CA360408876

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90745619-G-T
• MyVariant Identifiers: chr5:g.90041436G>T (hg19) ; chr5:g.90745619G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745619G>T , CM000667.2:g.90745619G>T	GRCh38
NC_000005.9:g.90041436G>T , CM000667.1:g.90041436G>T	GRCh37
NC_000005.8:g.90077192G>T	NCBI36
NG_007083.1:g.191820G>T
NG_007083.2:g.221276G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10798G>T MANE Select	ENSP00000384582.2:p.Glu3600Ter
ENST00000639431.1:c.265+69410G>T	ENSP00000491057.1:n.265+69410G>T
ENST00000640374.1:n.3942G>T
ENST00000640464.1:n.1217G>T
ENST00000405460.6:c.10798G>T	ENSP00000384582.2:p.Glu3600Ter
ENST00000509621.1:c.3495G>T
NM_032119.3:c.10798G>T	NP_115495.3:p.Glu3600Ter
NR_003149.1:n.10811G>T
XM_011543675.1:c.10795G>T	XP_011541977.1:p.Glu3599Ter
XM_011543676.1:c.10717G>T	XP_011541978.1:p.Glu3573Ter
XM_011543677.1:c.8101G>T	XP_011541979.1:p.Glu2701Ter
XM_011543678.1:c.10798G>T	XP_011541980.1:p.Glu3600Ter
XM_011543679.1:c.*20G>T	XP_011541981.1:n.*20G>T
NM_032119.4:c.10798G>T MANE Select	NP_115495.3:p.Glu3600Ter
XM_017009963.2:c.10819G>T	XP_016865452.1:p.Glu3607Ter
XM_017009964.2:c.10816G>T	XP_016865453.1:p.Glu3606Ter
XM_017009965.1:c.10816G>T	XP_016865454.1:p.Glu3606Ter
XM_017009966.2:c.10738G>T	XP_016865455.1:p.Glu3580Ter
XM_017009967.1:c.10723G>T	XP_016865456.1:p.Glu3575Ter
XM_017009968.2:c.10819G>T	XP_016865457.1:p.Glu3607Ter
XM_017009969.2:c.10819G>T	XP_016865458.1:p.Glu3607Ter
XM_017009970.2:c.10819G>T	XP_016865459.1:p.Glu3607Ter
XM_017009971.2:c.10819G>T	XP_016865460.1:p.Glu3607Ter
XM_017009972.1:c.3937G>T	XP_016865461.1:p.Glu1313Ter
XM_017009973.1:c.3916G>T	XP_016865462.1:p.Glu1306Ter
XM_017009974.2:c.*20G>T	XP_016865463.1:n.*20G>T
NR_003149.2:n.10814G>T