Canonical Allele Identifier: CA360414020

Gene: ADGRV1

Linked Data

• COSMIC: COSM1439068
• MyVariant Identifiers: chr5:g.89979788C>T (hg19) ; chr5:g.90683971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90683971C>T , CM000667.2:g.90683971C>T	GRCh38
NC_000005.9:g.89979788C>T , CM000667.1:g.89979788C>T	GRCh37
NC_000005.8:g.90015544C>T	NCBI36
NG_007083.1:g.130172C>T
NG_007083.2:g.159628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6050C>T MANE Select	ENSP00000384582.2:p.Thr2017Ile
ENST00000639431.1:c.265+7762C>T	ENSP00000491057.1:n.265+7762C>T
ENST00000639473.1:n.1509C>T
ENST00000640012.1:c.165-1809C>T
ENST00000640403.1:c.3341C>T	ENSP00000492531.1:p.Thr1114Ile
ENST00000640779.1:c.862C>T
ENST00000405460.6:c.6050C>T	ENSP00000384582.2:p.Thr2017Ile
NM_032119.3:c.6050C>T	NP_115495.3:p.Thr2017Ile
NR_003149.1:n.6146C>T
XM_011543675.1:c.6047C>T	XP_011541977.1:p.Thr2016Ile
XM_011543676.1:c.5969C>T	XP_011541978.1:p.Thr1990Ile
XM_011543677.1:c.3353C>T	XP_011541979.1:p.Thr1118Ile
XM_011543678.1:c.6050C>T	XP_011541980.1:p.Thr2017Ile
XM_011543679.1:c.6050C>T	XP_011541981.1:p.Thr2017Ile
NM_032119.4:c.6050C>T MANE Select	NP_115495.3:p.Thr2017Ile
XM_017009963.2:c.6050C>T	XP_016865452.1:p.Thr2017Ile
XM_017009964.2:c.6047C>T	XP_016865453.1:p.Thr2016Ile
XM_017009965.1:c.6047C>T	XP_016865454.1:p.Thr2016Ile
XM_017009966.2:c.5969C>T	XP_016865455.1:p.Thr1990Ile
XM_017009967.1:c.5954C>T	XP_016865456.1:p.Thr1985Ile
XM_017009968.2:c.6050C>T	XP_016865457.1:p.Thr2017Ile
XM_017009969.2:c.6050C>T	XP_016865458.1:p.Thr2017Ile
XM_017009970.2:c.6050C>T	XP_016865459.1:p.Thr2017Ile
XM_017009971.2:c.6050C>T	XP_016865460.1:p.Thr2017Ile
XM_017009973.1:c.-750C>T	XP_016865462.1:n.-750C>T
XM_017009974.2:c.6050C>T	XP_016865463.1:p.Thr2017Ile
NR_003149.2:n.6149C>T