Canonical Allele Identifier: CA3340056

Gene: ADGRV1

Linked Data

• dbSNP Id: rs187384843
• ExAC: 5:89990143 G / T
• gnomAD v2: 5-89990143-G-T
• gnomAD v3: 5-90694326-G-T
• gnomAD v4: 5-90694326-G-T
• MyVariant Identifiers: chr5:g.89990143G>T (hg19) ; chr5:g.90694326G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90694326G>T , CM000667.2:g.90694326G>T	GRCh38
NC_000005.9:g.89990143G>T , CM000667.1:g.89990143G>T	GRCh37
NC_000005.8:g.90025899G>T	NCBI36
NG_007083.1:g.140527G>T
NG_007083.2:g.169983G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.7570G>T MANE Select	ENSP00000384582.2:p.Val2524Leu
ENST00000639431.1:c.265+18117G>T	ENSP00000491057.1:n.265+18117G>T
ENST00000639473.1:n.3029G>T
ENST00000640012.1:c.1377G>T
ENST00000640374.1:n.714G>T
ENST00000640403.1:c.4861G>T	ENSP00000492531.1:p.Val1621Leu
ENST00000640779.1:c.2299G>T
ENST00000405460.6:c.7570G>T	ENSP00000384582.2:p.Val2524Leu
ENST00000509621.1:c.267G>T
NM_032119.3:c.7570G>T	NP_115495.3:p.Val2524Leu
NR_003149.1:n.7583G>T
XM_011543675.1:c.7567G>T	XP_011541977.1:p.Val2523Leu
XM_011543676.1:c.7489G>T	XP_011541978.1:p.Val2497Leu
XM_011543677.1:c.4873G>T	XP_011541979.1:p.Val1625Leu
XM_011543678.1:c.7570G>T	XP_011541980.1:p.Val2524Leu
XM_011543679.1:c.7570G>T	XP_011541981.1:p.Val2524Leu
NM_032119.4:c.7570G>T MANE Select	NP_115495.3:p.Val2524Leu
XM_017009963.2:c.7570G>T	XP_016865452.1:p.Val2524Leu
XM_017009964.2:c.7567G>T	XP_016865453.1:p.Val2523Leu
XM_017009965.1:c.7567G>T	XP_016865454.1:p.Val2523Leu
XM_017009966.2:c.7489G>T	XP_016865455.1:p.Val2497Leu
XM_017009967.1:c.7474G>T	XP_016865456.1:p.Val2492Leu
XM_017009968.2:c.7570G>T	XP_016865457.1:p.Val2524Leu
XM_017009969.2:c.7570G>T	XP_016865458.1:p.Val2524Leu
XM_017009970.2:c.7570G>T	XP_016865459.1:p.Val2524Leu
XM_017009971.2:c.7570G>T	XP_016865460.1:p.Val2524Leu
XM_017009972.1:c.688G>T	XP_016865461.1:p.Val230Leu
XM_017009973.1:c.688G>T	XP_016865462.1:p.Val230Leu
XM_017009974.2:c.7570G>T	XP_016865463.1:p.Val2524Leu
NR_003149.2:n.7586G>T