Canonical Allele Identifier: CA360410295

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89971242T>C (hg19) ; chr5:g.90675425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90675425T>C , CM000667.2:g.90675425T>C	GRCh38
NC_000005.9:g.89971242T>C , CM000667.1:g.89971242T>C	GRCh37
NC_000005.8:g.90006998T>C	NCBI36
NG_007083.1:g.121626T>C
NG_007083.2:g.151082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.5293T>C MANE Select	ENSP00000384582.2:p.Phe1765Leu
ENST00000639431.1:c.115T>C	ENSP00000491057.1:p.Phe39Leu
ENST00000639473.1:n.752T>C
ENST00000640403.1:c.2584T>C	ENSP00000492531.1:p.Phe862Leu
ENST00000640779.1:c.108T>C
ENST00000405460.6:c.5293T>C	ENSP00000384582.2:p.Phe1765Leu
ENST00000450321.2:n.628T>C
NM_032119.3:c.5293T>C	NP_115495.3:p.Phe1765Leu
NR_003149.1:n.5389T>C
XM_011543675.1:c.5293T>C	XP_011541977.1:p.Phe1765Leu
XM_011543676.1:c.5293T>C	XP_011541978.1:p.Phe1765Leu
XM_011543677.1:c.2596T>C	XP_011541979.1:p.Phe866Leu
XM_011543678.1:c.5293T>C	XP_011541980.1:p.Phe1765Leu
XM_011543679.1:c.5293T>C	XP_011541981.1:p.Phe1765Leu
NM_032119.4:c.5293T>C MANE Select	NP_115495.3:p.Phe1765Leu
XM_017009963.2:c.5293T>C	XP_016865452.1:p.Phe1765Leu
XM_017009964.2:c.5293T>C	XP_016865453.1:p.Phe1765Leu
XM_017009965.1:c.5290T>C	XP_016865454.1:p.Phe1764Leu
XM_017009966.2:c.5293T>C	XP_016865455.1:p.Phe1765Leu
XM_017009967.1:c.5197T>C	XP_016865456.1:p.Phe1733Leu
XM_017009968.2:c.5293T>C	XP_016865457.1:p.Phe1765Leu
XM_017009969.2:c.5293T>C	XP_016865458.1:p.Phe1765Leu
XM_017009970.2:c.5293T>C	XP_016865459.1:p.Phe1765Leu
XM_017009971.2:c.5293T>C	XP_016865460.1:p.Phe1765Leu
XM_017009973.1:c.-1504T>C	XP_016865462.1:n.-1504T>C
XM_017009974.2:c.5293T>C	XP_016865463.1:p.Phe1765Leu
NR_003149.2:n.5392T>C