Canonical Allele Identifier: CA360397758

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90012524T>G (hg19) ; chr5:g.90716707T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716707T>G , CM000667.2:g.90716707T>G	GRCh38
NC_000005.9:g.90012524T>G , CM000667.1:g.90012524T>G	GRCh37
NC_000005.8:g.90048280T>G	NCBI36
NG_007083.1:g.162908T>G
NG_007083.2:g.192364T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9425T>G MANE Select	ENSP00000384582.2:p.Leu3142Ter
ENST00000639431.1:c.265+40498T>G	ENSP00000491057.1:n.265+40498T>G
ENST00000639473.1:n.4884T>G
ENST00000640012.1:c.3232T>G
ENST00000640374.1:n.2569T>G
ENST00000640779.1:c.4154T>G
ENST00000405460.6:c.9425T>G	ENSP00000384582.2:p.Leu3142Ter
ENST00000509621.1:c.2122T>G
NM_032119.3:c.9425T>G	NP_115495.3:p.Leu3142Ter
NR_003149.1:n.9438T>G
XM_011543675.1:c.9422T>G	XP_011541977.1:p.Leu3141Ter
XM_011543676.1:c.9344T>G	XP_011541978.1:p.Leu3115Ter
XM_011543677.1:c.6728T>G	XP_011541979.1:p.Leu2243Ter
XM_011543678.1:c.9425T>G	XP_011541980.1:p.Leu3142Ter
XM_011543679.1:c.9425T>G	XP_011541981.1:p.Leu3142Ter
XR_948560.1:n.272-898A>C
NM_032119.4:c.9425T>G MANE Select	NP_115495.3:p.Leu3142Ter
XM_017009963.2:c.9446T>G	XP_016865452.1:p.Leu3149Ter
XM_017009964.2:c.9443T>G	XP_016865453.1:p.Leu3148Ter
XM_017009965.1:c.9443T>G	XP_016865454.1:p.Leu3148Ter
XM_017009966.2:c.9365T>G	XP_016865455.1:p.Leu3122Ter
XM_017009967.1:c.9350T>G	XP_016865456.1:p.Leu3117Ter
XM_017009968.2:c.9446T>G	XP_016865457.1:p.Leu3149Ter
XM_017009969.2:c.9446T>G	XP_016865458.1:p.Leu3149Ter
XM_017009970.2:c.9446T>G	XP_016865459.1:p.Leu3149Ter
XM_017009971.2:c.9446T>G	XP_016865460.1:p.Leu3149Ter
XM_017009972.1:c.2564T>G	XP_016865461.1:p.Leu855Ter
XM_017009973.1:c.2543T>G	XP_016865462.1:p.Leu848Ter
XM_017009974.2:c.9446T>G	XP_016865463.1:p.Leu3149Ter
XR_001742802.1:n.2523-898A>C
NR_003149.2:n.9441T>G