Canonical Allele Identifier: CA360378176

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059222G>T (hg19) ; chr5:g.90763405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763405G>T , CM000667.2:g.90763405G>T	GRCh38
NC_000005.9:g.90059222G>T , CM000667.1:g.90059222G>T	GRCh37
NC_000005.8:g.90094978G>T	NCBI36
NG_007083.1:g.209606G>T
NG_007083.2:g.239062G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12221G>T MANE Select	ENSP00000384582.2:p.Trp4074Leu
ENST00000425867.3:c.1175G>T	ENSP00000392618.3:p.Trp392Leu
ENST00000639431.1:c.265+87196G>T	ENSP00000491057.1:n.265+87196G>T
ENST00000640464.1:n.2640G>T
ENST00000640729.1:n.798G>T
ENST00000405460.6:c.12221G>T	ENSP00000384582.2:p.Trp4074Leu
NM_032119.3:c.12221G>T	NP_115495.3:p.Trp4074Leu
NR_003149.1:n.12234G>T
XM_011543675.1:c.12218G>T	XP_011541977.1:p.Trp4073Leu
XM_011543676.1:c.12140G>T	XP_011541978.1:p.Trp4047Leu
XM_011543677.1:c.9524G>T	XP_011541979.1:p.Trp3175Leu
XM_011543678.1:c.12221G>T	XP_011541980.1:p.Trp4074Leu
NM_032119.4:c.12221G>T MANE Select	NP_115495.3:p.Trp4074Leu
XM_017009963.2:c.12242G>T	XP_016865452.1:p.Trp4081Leu
XM_017009964.2:c.12239G>T	XP_016865453.1:p.Trp4080Leu
XM_017009965.1:c.12239G>T	XP_016865454.1:p.Trp4080Leu
XM_017009966.2:c.12161G>T	XP_016865455.1:p.Trp4054Leu
XM_017009967.1:c.12146G>T	XP_016865456.1:p.Trp4049Leu
XM_017009968.2:c.12242G>T	XP_016865457.1:p.Trp4081Leu
XM_017009969.2:c.12242G>T	XP_016865458.1:p.Trp4081Leu
XM_017009970.2:c.12242G>T	XP_016865459.1:p.Trp4081Leu
XM_017009971.2:c.12242G>T	XP_016865460.1:p.Trp4081Leu
XM_017009972.1:c.5360G>T	XP_016865461.1:p.Trp1787Leu
XM_017009973.1:c.5339G>T	XP_016865462.1:p.Trp1780Leu
NR_003149.2:n.12237G>T