Canonical Allele Identifier: CA445413884

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2906770
• ClinVar RCV Id: RCV003734332
• dbSNP Id: rs1750147730
• gnomAD v4: 5-90716672-T-G
• MyVariant Identifiers: chr5:g.90012489T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716672T>G , CM000667.2:g.90716672T>G	GRCh38
NC_000005.9:g.90012489T>G , CM000667.1:g.90012489T>G	GRCh37
NC_000005.8:g.90048245T>G	NCBI36
NG_007083.1:g.162873T>G
NG_007083.2:g.192329T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9390T>G MANE Select	ENSP00000384582.2:p.Ser3130=
ENST00000639431.1:c.265+40463T>G	ENSP00000491057.1:n.265+40463T>G
ENST00000639473.1:n.4849T>G
ENST00000640012.1:c.3197T>G
ENST00000640374.1:n.2534T>G
ENST00000640779.1:c.4119T>G
ENST00000405460.6:c.9390T>G	ENSP00000384582.2:p.Ser3130=
ENST00000509621.1:c.2087T>G
NM_032119.3:c.9390T>G	NP_115495.3:p.Ser3130=
NR_003149.1:n.9403T>G
XM_011543675.1:c.9387T>G	XP_011541977.1:p.Ser3129=
XM_011543676.1:c.9309T>G	XP_011541978.1:p.Ser3103=
XM_011543677.1:c.6693T>G	XP_011541979.1:p.Ser2231=
XM_011543678.1:c.9390T>G	XP_011541980.1:p.Ser3130=
XM_011543679.1:c.9390T>G	XP_011541981.1:p.Ser3130=
XR_948560.1:n.272-863A>C
NM_032119.4:c.9390T>G MANE Select	NP_115495.3:p.Ser3130=
XM_017009963.2:c.9411T>G	XP_016865452.1:p.Ser3137=
XM_017009964.2:c.9408T>G	XP_016865453.1:p.Ser3136=
XM_017009965.1:c.9408T>G	XP_016865454.1:p.Ser3136=
XM_017009966.2:c.9330T>G	XP_016865455.1:p.Ser3110=
XM_017009967.1:c.9315T>G	XP_016865456.1:p.Ser3105=
XM_017009968.2:c.9411T>G	XP_016865457.1:p.Ser3137=
XM_017009969.2:c.9411T>G	XP_016865458.1:p.Ser3137=
XM_017009970.2:c.9411T>G	XP_016865459.1:p.Ser3137=
XM_017009971.2:c.9411T>G	XP_016865460.1:p.Ser3137=
XM_017009972.1:c.2529T>G	XP_016865461.1:p.Ser843=
XM_017009973.1:c.2508T>G	XP_016865462.1:p.Ser836=
XM_017009974.2:c.9411T>G	XP_016865463.1:p.Ser3137=
XR_001742802.1:n.2523-863A>C
NR_003149.2:n.9406T>G