Canonical Allele Identifier: CA3340642

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90725186C>T , CM000667.2:g.90725186C>T	GRCh38
NC_000005.9:g.90021003C>T , CM000667.1:g.90021003C>T	GRCh37
NC_000005.8:g.90056759C>T	NCBI36
NG_007083.1:g.171387C>T
NG_007083.2:g.200843C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.10007C>T MANE Select	NP_115495.3:p.Ser3336Phe
ENST00000405460.9:c.10007C>T MANE Select	ENSP00000384582.2:p.Ser3336Phe
NM_032119.3:c.10007C>T	NP_115495.3:p.Ser3336Phe
NR_003149.1:n.10020C>T
NR_003149.2:n.10023C>T
ENST00000405460.6:c.10007C>T	ENSP00000384582.2:p.Ser3336Phe
ENST00000509621.1:c.2704C>T
ENST00000639431.1:c.265+48977C>T	ENSP00000491057.1:n.265+48977C>T
ENST00000640374.1:n.3151C>T
ENST00000640464.1:n.426C>T
XM_011543675.1:c.10004C>T	XP_011541977.1:p.Ser3335Phe
XM_011543676.1:c.9926C>T	XP_011541978.1:p.Ser3309Phe
XM_011543677.1:c.7310C>T	XP_011541979.1:p.Ser2437Phe
XM_011543678.1:c.10007C>T	XP_011541980.1:p.Ser3336Phe
XM_011543679.1:c.10007C>T	XP_011541981.1:p.Ser3336Phe
XM_017009963.2:c.10028C>T	XP_016865452.1:p.Ser3343Phe
XM_017009964.2:c.10025C>T	XP_016865453.1:p.Ser3342Phe
XM_017009965.1:c.10025C>T	XP_016865454.1:p.Ser3342Phe
XM_017009966.2:c.9947C>T	XP_016865455.1:p.Ser3316Phe
XM_017009967.1:c.9932C>T	XP_016865456.1:p.Ser3311Phe
XM_017009968.2:c.10028C>T	XP_016865457.1:p.Ser3343Phe
XM_017009969.2:c.10028C>T	XP_016865458.1:p.Ser3343Phe
XM_017009970.2:c.10028C>T	XP_016865459.1:p.Ser3343Phe
XM_017009971.2:c.10028C>T	XP_016865460.1:p.Ser3343Phe
XM_017009972.1:c.3146C>T	XP_016865461.1:p.Ser1049Phe
XM_017009973.1:c.3125C>T	XP_016865462.1:p.Ser1042Phe
XM_017009974.2:c.10028C>T	XP_016865463.1:p.Ser3343Phe
XR_001742802.1:n.2523-9377G>A
XR_948560.1:n.272-9377G>A