Canonical Allele Identifier: CA3340755

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90729690C>T , CM000667.2:g.90729690C>T	GRCh38
NC_000005.9:g.90025507C>T , CM000667.1:g.90025507C>T	GRCh37
NC_000005.8:g.90061263C>T	NCBI36
NG_007083.1:g.175891C>T
NG_007083.2:g.205347C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.10475C>T MANE Select	NP_115495.3:p.Ser3492Phe
ENST00000405460.9:c.10475C>T MANE Select	ENSP00000384582.2:p.Ser3492Phe
NM_032119.3:c.10475C>T	NP_115495.3:p.Ser3492Phe
NR_003149.1:n.10488C>T
NR_003149.2:n.10491C>T
ENST00000405460.6:c.10475C>T	ENSP00000384582.2:p.Ser3492Phe
ENST00000509621.1:c.3172C>T
ENST00000639431.1:c.265+53481C>T	ENSP00000491057.1:n.265+53481C>T
ENST00000640374.1:n.3619C>T
ENST00000640464.1:n.894C>T
XM_011543675.1:c.10472C>T	XP_011541977.1:p.Ser3491Phe
XM_011543676.1:c.10394C>T	XP_011541978.1:p.Ser3465Phe
XM_011543677.1:c.7778C>T	XP_011541979.1:p.Ser2593Phe
XM_011543678.1:c.10475C>T	XP_011541980.1:p.Ser3492Phe
XM_011543679.1:c.10475C>T	XP_011541981.1:p.Ser3492Phe
XM_017009963.2:c.10496C>T	XP_016865452.1:p.Ser3499Phe
XM_017009964.2:c.10493C>T	XP_016865453.1:p.Ser3498Phe
XM_017009965.1:c.10493C>T	XP_016865454.1:p.Ser3498Phe
XM_017009966.2:c.10415C>T	XP_016865455.1:p.Ser3472Phe
XM_017009967.1:c.10400C>T	XP_016865456.1:p.Ser3467Phe
XM_017009968.2:c.10496C>T	XP_016865457.1:p.Ser3499Phe
XM_017009969.2:c.10496C>T	XP_016865458.1:p.Ser3499Phe
XM_017009970.2:c.10496C>T	XP_016865459.1:p.Ser3499Phe
XM_017009971.2:c.10496C>T	XP_016865460.1:p.Ser3499Phe
XM_017009972.1:c.3614C>T	XP_016865461.1:p.Ser1205Phe
XM_017009973.1:c.3593C>T	XP_016865462.1:p.Ser1198Phe
XM_017009974.2:c.10496C>T	XP_016865463.1:p.Ser3499Phe
XR_001742802.1:n.2522+11217G>A
XR_948560.1:n.271+11217G>A