Canonical Allele Identifier: CA3340760

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90729708C>T , CM000667.2:g.90729708C>T	GRCh38
NC_000005.9:g.90025525C>T , CM000667.1:g.90025525C>T	GRCh37
NC_000005.8:g.90061281C>T	NCBI36
NG_007083.1:g.175909C>T
NG_007083.2:g.205365C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.10493C>T MANE Select	NP_115495.3:p.Ser3498Phe
ENST00000405460.9:c.10493C>T MANE Select	ENSP00000384582.2:p.Ser3498Phe
NM_032119.3:c.10493C>T	NP_115495.3:p.Ser3498Phe
NR_003149.1:n.10506C>T
NR_003149.2:n.10509C>T
ENST00000405460.6:c.10493C>T	ENSP00000384582.2:p.Ser3498Phe
ENST00000509621.1:c.3190C>T
ENST00000639431.1:c.265+53499C>T	ENSP00000491057.1:n.265+53499C>T
ENST00000640374.1:n.3637C>T
ENST00000640464.1:n.912C>T
XM_011543675.1:c.10490C>T	XP_011541977.1:p.Ser3497Phe
XM_011543676.1:c.10412C>T	XP_011541978.1:p.Ser3471Phe
XM_011543677.1:c.7796C>T	XP_011541979.1:p.Ser2599Phe
XM_011543678.1:c.10493C>T	XP_011541980.1:p.Ser3498Phe
XM_011543679.1:c.10493C>T	XP_011541981.1:p.Ser3498Phe
XM_017009963.2:c.10514C>T	XP_016865452.1:p.Ser3505Phe
XM_017009964.2:c.10511C>T	XP_016865453.1:p.Ser3504Phe
XM_017009965.1:c.10511C>T	XP_016865454.1:p.Ser3504Phe
XM_017009966.2:c.10433C>T	XP_016865455.1:p.Ser3478Phe
XM_017009967.1:c.10418C>T	XP_016865456.1:p.Ser3473Phe
XM_017009968.2:c.10514C>T	XP_016865457.1:p.Ser3505Phe
XM_017009969.2:c.10514C>T	XP_016865458.1:p.Ser3505Phe
XM_017009970.2:c.10514C>T	XP_016865459.1:p.Ser3505Phe
XM_017009971.2:c.10514C>T	XP_016865460.1:p.Ser3505Phe
XM_017009972.1:c.3632C>T	XP_016865461.1:p.Ser1211Phe
XM_017009973.1:c.3611C>T	XP_016865462.1:p.Ser1204Phe
XM_017009974.2:c.10514C>T	XP_016865463.1:p.Ser3505Phe
XR_001742802.1:n.2522+11199G>A
XR_948560.1:n.271+11199G>A