Canonical Allele Identifier: CA360397593

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90716662-C-T
• MyVariant Identifiers: chr5:g.90012479C>T (hg19) ; chr5:g.90716662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716662C>T , CM000667.2:g.90716662C>T	GRCh38
NC_000005.9:g.90012479C>T , CM000667.1:g.90012479C>T	GRCh37
NC_000005.8:g.90048235C>T	NCBI36
NG_007083.1:g.162863C>T
NG_007083.2:g.192319C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9380C>T MANE Select	ENSP00000384582.2:p.Ser3127Leu
ENST00000639431.1:c.265+40453C>T	ENSP00000491057.1:n.265+40453C>T
ENST00000639473.1:n.4839C>T
ENST00000640012.1:c.3187C>T
ENST00000640374.1:n.2524C>T
ENST00000640779.1:c.4109C>T
ENST00000405460.6:c.9380C>T	ENSP00000384582.2:p.Ser3127Leu
ENST00000509621.1:c.2077C>T
NM_032119.3:c.9380C>T	NP_115495.3:p.Ser3127Leu
NR_003149.1:n.9393C>T
XM_011543675.1:c.9377C>T	XP_011541977.1:p.Ser3126Leu
XM_011543676.1:c.9299C>T	XP_011541978.1:p.Ser3100Leu
XM_011543677.1:c.6683C>T	XP_011541979.1:p.Ser2228Leu
XM_011543678.1:c.9380C>T	XP_011541980.1:p.Ser3127Leu
XM_011543679.1:c.9380C>T	XP_011541981.1:p.Ser3127Leu
XR_948560.1:n.272-853G>A
NM_032119.4:c.9380C>T MANE Select	NP_115495.3:p.Ser3127Leu
XM_017009963.2:c.9401C>T	XP_016865452.1:p.Ser3134Leu
XM_017009964.2:c.9398C>T	XP_016865453.1:p.Ser3133Leu
XM_017009965.1:c.9398C>T	XP_016865454.1:p.Ser3133Leu
XM_017009966.2:c.9320C>T	XP_016865455.1:p.Ser3107Leu
XM_017009967.1:c.9305C>T	XP_016865456.1:p.Ser3102Leu
XM_017009968.2:c.9401C>T	XP_016865457.1:p.Ser3134Leu
XM_017009969.2:c.9401C>T	XP_016865458.1:p.Ser3134Leu
XM_017009970.2:c.9401C>T	XP_016865459.1:p.Ser3134Leu
XM_017009971.2:c.9401C>T	XP_016865460.1:p.Ser3134Leu
XM_017009972.1:c.2519C>T	XP_016865461.1:p.Ser840Leu
XM_017009973.1:c.2498C>T	XP_016865462.1:p.Ser833Leu
XM_017009974.2:c.9401C>T	XP_016865463.1:p.Ser3134Leu
XR_001742802.1:n.2523-853G>A
NR_003149.2:n.9396C>T