Canonical Allele Identifier: CA360399137

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90085655T>G (hg19) ; chr5:g.90789838T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789838T>G , CM000667.2:g.90789838T>G	GRCh38
NC_000005.9:g.90085655T>G , CM000667.1:g.90085655T>G	GRCh37
NC_000005.8:g.90121411T>G	NCBI36
NG_007083.1:g.236039T>G
NG_007083.2:g.265495T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.14030T>G MANE Select	ENSP00000384582.2:p.Phe4677Cys
ENST00000425867.3:c.2984T>G	ENSP00000392618.3:p.Phe995Cys
ENST00000638510.1:n.1297T>G
ENST00000638975.1:c.659T>G	ENSP00000492630.1:p.Phe220Cys
ENST00000639431.1:c.265+113629T>G	ENSP00000491057.1:n.265+113629T>G
ENST00000640407.1:c.440T>G	ENSP00000491425.1:p.Phe147Cys
ENST00000405460.6:c.14030T>G	ENSP00000384582.2:p.Phe4677Cys
ENST00000425867.2:c.1013T>G	ENSP00000392618.2:p.Phe338Cys
NM_032119.3:c.14030T>G	NP_115495.3:p.Phe4677Cys
NR_003149.1:n.14043T>G
XM_011543675.1:c.14027T>G	XP_011541977.1:p.Phe4676Cys
XM_011543676.1:c.13949T>G	XP_011541978.1:p.Phe4650Cys
XM_011543677.1:c.11333T>G	XP_011541979.1:p.Phe3778Cys
XM_011543678.1:c.14030T>G	XP_011541980.1:p.Phe4677Cys
NM_032119.4:c.14030T>G MANE Select	NP_115495.3:p.Phe4677Cys
XM_017009963.2:c.14051T>G	XP_016865452.1:p.Phe4684Cys
XM_017009964.2:c.14048T>G	XP_016865453.1:p.Phe4683Cys
XM_017009965.1:c.14048T>G	XP_016865454.1:p.Phe4683Cys
XM_017009966.2:c.13970T>G	XP_016865455.1:p.Phe4657Cys
XM_017009967.1:c.13955T>G	XP_016865456.1:p.Phe4652Cys
XM_017009968.2:c.14051T>G	XP_016865457.1:p.Phe4684Cys
XM_017009969.2:c.14051T>G	XP_016865458.1:p.Phe4684Cys
XM_017009970.2:c.14051T>G	XP_016865459.1:p.Phe4684Cys
XM_017009971.2:c.14051T>G	XP_016865460.1:p.Phe4684Cys
XM_017009972.1:c.7169T>G	XP_016865461.1:p.Phe2390Cys
XM_017009973.1:c.7148T>G	XP_016865462.1:p.Phe2383Cys
NR_003149.2:n.14046T>G