Canonical Allele Identifier: CA360397586

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90716659-C-T
• MyVariant Identifiers: chr5:g.90012476C>T (hg19) ; chr5:g.90716659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716659C>T , CM000667.2:g.90716659C>T	GRCh38
NC_000005.9:g.90012476C>T , CM000667.1:g.90012476C>T	GRCh37
NC_000005.8:g.90048232C>T	NCBI36
NG_007083.1:g.162860C>T
NG_007083.2:g.192316C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9377C>T MANE Select	ENSP00000384582.2:p.Ser3126Phe
ENST00000639431.1:c.265+40450C>T	ENSP00000491057.1:n.265+40450C>T
ENST00000639473.1:n.4836C>T
ENST00000640012.1:c.3184C>T
ENST00000640374.1:n.2521C>T
ENST00000640779.1:c.4106C>T
ENST00000405460.6:c.9377C>T	ENSP00000384582.2:p.Ser3126Phe
ENST00000509621.1:c.2074C>T
NM_032119.3:c.9377C>T	NP_115495.3:p.Ser3126Phe
NR_003149.1:n.9390C>T
XM_011543675.1:c.9374C>T	XP_011541977.1:p.Ser3125Phe
XM_011543676.1:c.9296C>T	XP_011541978.1:p.Ser3099Phe
XM_011543677.1:c.6680C>T	XP_011541979.1:p.Ser2227Phe
XM_011543678.1:c.9377C>T	XP_011541980.1:p.Ser3126Phe
XM_011543679.1:c.9377C>T	XP_011541981.1:p.Ser3126Phe
XR_948560.1:n.272-850G>A
NM_032119.4:c.9377C>T MANE Select	NP_115495.3:p.Ser3126Phe
XM_017009963.2:c.9398C>T	XP_016865452.1:p.Ser3133Phe
XM_017009964.2:c.9395C>T	XP_016865453.1:p.Ser3132Phe
XM_017009965.1:c.9395C>T	XP_016865454.1:p.Ser3132Phe
XM_017009966.2:c.9317C>T	XP_016865455.1:p.Ser3106Phe
XM_017009967.1:c.9302C>T	XP_016865456.1:p.Ser3101Phe
XM_017009968.2:c.9398C>T	XP_016865457.1:p.Ser3133Phe
XM_017009969.2:c.9398C>T	XP_016865458.1:p.Ser3133Phe
XM_017009970.2:c.9398C>T	XP_016865459.1:p.Ser3133Phe
XM_017009971.2:c.9398C>T	XP_016865460.1:p.Ser3133Phe
XM_017009972.1:c.2516C>T	XP_016865461.1:p.Ser839Phe
XM_017009973.1:c.2495C>T	XP_016865462.1:p.Ser832Phe
XM_017009974.2:c.9398C>T	XP_016865463.1:p.Ser3133Phe
XR_001742802.1:n.2523-850G>A
NR_003149.2:n.9393C>T