Canonical Allele Identifier: CA360408841

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041426T>G (hg19) ; chr5:g.90745609T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745609T>G , CM000667.2:g.90745609T>G	GRCh38
NC_000005.9:g.90041426T>G , CM000667.1:g.90041426T>G	GRCh37
NC_000005.8:g.90077182T>G	NCBI36
NG_007083.1:g.191810T>G
NG_007083.2:g.221266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10788T>G MANE Select	ENSP00000384582.2:p.Phe3596Leu
ENST00000639431.1:c.265+69400T>G	ENSP00000491057.1:n.265+69400T>G
ENST00000640374.1:n.3932T>G
ENST00000640464.1:n.1207T>G
ENST00000405460.6:c.10788T>G	ENSP00000384582.2:p.Phe3596Leu
ENST00000509621.1:c.3485T>G
NM_032119.3:c.10788T>G	NP_115495.3:p.Phe3596Leu
NR_003149.1:n.10801T>G
XM_011543675.1:c.10785T>G	XP_011541977.1:p.Phe3595Leu
XM_011543676.1:c.10707T>G	XP_011541978.1:p.Phe3569Leu
XM_011543677.1:c.8091T>G	XP_011541979.1:p.Phe2697Leu
XM_011543678.1:c.10788T>G	XP_011541980.1:p.Phe3596Leu
XM_011543679.1:c.*10T>G	XP_011541981.1:n.*10T>G
NM_032119.4:c.10788T>G MANE Select	NP_115495.3:p.Phe3596Leu
XM_017009963.2:c.10809T>G	XP_016865452.1:p.Phe3603Leu
XM_017009964.2:c.10806T>G	XP_016865453.1:p.Phe3602Leu
XM_017009965.1:c.10806T>G	XP_016865454.1:p.Phe3602Leu
XM_017009966.2:c.10728T>G	XP_016865455.1:p.Phe3576Leu
XM_017009967.1:c.10713T>G	XP_016865456.1:p.Phe3571Leu
XM_017009968.2:c.10809T>G	XP_016865457.1:p.Phe3603Leu
XM_017009969.2:c.10809T>G	XP_016865458.1:p.Phe3603Leu
XM_017009970.2:c.10809T>G	XP_016865459.1:p.Phe3603Leu
XM_017009971.2:c.10809T>G	XP_016865460.1:p.Phe3603Leu
XM_017009972.1:c.3927T>G	XP_016865461.1:p.Phe1309Leu
XM_017009973.1:c.3906T>G	XP_016865462.1:p.Phe1302Leu
XM_017009974.2:c.*10T>G	XP_016865463.1:n.*10T>G
NR_003149.2:n.10804T>G