Canonical Allele Identifier: CA122808913

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90724880C>T , CM000667.2:g.90724880C>T	GRCh38
NC_000005.9:g.90020697C>T , CM000667.1:g.90020697C>T	GRCh37
NC_000005.8:g.90056453C>T	NCBI36
NG_007083.1:g.171081C>T
NG_007083.2:g.200537C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9797C>T MANE Select	NP_115495.3:p.Ser3266Leu
ENST00000405460.9:c.9797C>T MANE Select	ENSP00000384582.2:p.Ser3266Leu
NM_032119.3:c.9797C>T	NP_115495.3:p.Ser3266Leu
NR_003149.1:n.9810C>T
NR_003149.2:n.9813C>T
ENST00000405460.6:c.9797C>T	ENSP00000384582.2:p.Ser3266Leu
ENST00000509621.1:c.2494C>T
ENST00000639431.1:c.265+48671C>T	ENSP00000491057.1:n.265+48671C>T
ENST00000640374.1:n.2941C>T
ENST00000640464.1:n.216C>T
ENST00000640779.1:c.4526C>T
XM_011543675.1:c.9794C>T	XP_011541977.1:p.Ser3265Leu
XM_011543676.1:c.9716C>T	XP_011541978.1:p.Ser3239Leu
XM_011543677.1:c.7100C>T	XP_011541979.1:p.Ser2367Leu
XM_011543678.1:c.9797C>T	XP_011541980.1:p.Ser3266Leu
XM_011543679.1:c.9797C>T	XP_011541981.1:p.Ser3266Leu
XM_017009963.2:c.9818C>T	XP_016865452.1:p.Ser3273Leu
XM_017009964.2:c.9815C>T	XP_016865453.1:p.Ser3272Leu
XM_017009965.1:c.9815C>T	XP_016865454.1:p.Ser3272Leu
XM_017009966.2:c.9737C>T	XP_016865455.1:p.Ser3246Leu
XM_017009967.1:c.9722C>T	XP_016865456.1:p.Ser3241Leu
XM_017009968.2:c.9818C>T	XP_016865457.1:p.Ser3273Leu
XM_017009969.2:c.9818C>T	XP_016865458.1:p.Ser3273Leu
XM_017009970.2:c.9818C>T	XP_016865459.1:p.Ser3273Leu
XM_017009971.2:c.9818C>T	XP_016865460.1:p.Ser3273Leu
XM_017009972.1:c.2936C>T	XP_016865461.1:p.Ser979Leu
XM_017009973.1:c.2915C>T	XP_016865462.1:p.Ser972Leu
XM_017009974.2:c.9818C>T	XP_016865463.1:p.Ser3273Leu
XR_001742802.1:n.2523-9071G>A
XR_948560.1:n.272-9071G>A