Canonical Allele Identifier: CA360409149

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041497C>T (hg19) ; chr5:g.90745680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745680C>T , CM000667.2:g.90745680C>T	GRCh38
NC_000005.9:g.90041497C>T , CM000667.1:g.90041497C>T	GRCh37
NC_000005.8:g.90077253C>T	NCBI36
NG_007083.1:g.191881C>T
NG_007083.2:g.221337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10859C>T MANE Select	ENSP00000384582.2:p.Ser3620Phe
ENST00000639431.1:c.265+69471C>T	ENSP00000491057.1:n.265+69471C>T
ENST00000640374.1:n.4003C>T
ENST00000640464.1:n.1278C>T
ENST00000405460.6:c.10859C>T	ENSP00000384582.2:p.Ser3620Phe
ENST00000509621.1:c.3556C>T
NM_032119.3:c.10859C>T	NP_115495.3:p.Ser3620Phe
NR_003149.1:n.10872C>T
XM_011543675.1:c.10856C>T	XP_011541977.1:p.Ser3619Phe
XM_011543676.1:c.10778C>T	XP_011541978.1:p.Ser3593Phe
XM_011543677.1:c.8162C>T	XP_011541979.1:p.Ser2721Phe
XM_011543678.1:c.10859C>T	XP_011541980.1:p.Ser3620Phe
XM_011543679.1:c.*81C>T	XP_011541981.1:n.*81C>T
NM_032119.4:c.10859C>T MANE Select	NP_115495.3:p.Ser3620Phe
XM_017009963.2:c.10880C>T	XP_016865452.1:p.Ser3627Phe
XM_017009964.2:c.10877C>T	XP_016865453.1:p.Ser3626Phe
XM_017009965.1:c.10877C>T	XP_016865454.1:p.Ser3626Phe
XM_017009966.2:c.10799C>T	XP_016865455.1:p.Ser3600Phe
XM_017009967.1:c.10784C>T	XP_016865456.1:p.Ser3595Phe
XM_017009968.2:c.10880C>T	XP_016865457.1:p.Ser3627Phe
XM_017009969.2:c.10880C>T	XP_016865458.1:p.Ser3627Phe
XM_017009970.2:c.10880C>T	XP_016865459.1:p.Ser3627Phe
XM_017009971.2:c.10880C>T	XP_016865460.1:p.Ser3627Phe
XM_017009972.1:c.3998C>T	XP_016865461.1:p.Ser1333Phe
XM_017009973.1:c.3977C>T	XP_016865462.1:p.Ser1326Phe
XM_017009974.2:c.*81C>T	XP_016865463.1:n.*81C>T
NR_003149.2:n.10875C>T