Canonical Allele Identifier: CA3341928

Gene: ADGRV1

Linked Data

• dbSNP Id: rs753102106
• ExAC: 5:90106550 C / T
• gnomAD v2: 5-90106550-C-T
• gnomAD v4: 5-90810733-C-T
• MyVariant Identifiers: chr5:g.90106550C>T (hg19) ; chr5:g.90810733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90810733C>T , CM000667.2:g.90810733C>T	GRCh38
NC_000005.9:g.90106550C>T , CM000667.1:g.90106550C>T	GRCh37
NC_000005.8:g.90142306C>T	NCBI36
NG_007083.1:g.256934C>T
NG_007083.2:g.286390C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.15473C>T MANE Select	ENSP00000384582.2:p.Thr5158Ile
ENST00000425867.3:c.4427C>T	ENSP00000392618.3:p.Thr1476Ile
ENST00000638510.1:n.2740C>T
ENST00000639431.1:c.265+134524C>T	ENSP00000491057.1:n.265+134524C>T
ENST00000640407.1:c.1883C>T	ENSP00000491425.1:p.Thr628Ile
ENST00000405460.6:c.15473C>T	ENSP00000384582.2:p.Thr5158Ile
ENST00000425867.2:c.2456C>T	ENSP00000392618.2:p.Thr819Ile
NM_032119.3:c.15473C>T	NP_115495.3:p.Thr5158Ile
NR_003149.1:n.15486C>T
XM_011543675.1:c.15470C>T	XP_011541977.1:p.Thr5157Ile
XM_011543676.1:c.15392C>T	XP_011541978.1:p.Thr5131Ile
XM_011543677.1:c.12776C>T	XP_011541979.1:p.Thr4259Ile
NM_032119.4:c.15473C>T MANE Select	NP_115495.3:p.Thr5158Ile
XM_017009963.2:c.15494C>T	XP_016865452.1:p.Thr5165Ile
XM_017009964.2:c.15491C>T	XP_016865453.1:p.Thr5164Ile
XM_017009965.1:c.15491C>T	XP_016865454.1:p.Thr5164Ile
XM_017009966.2:c.15413C>T	XP_016865455.1:p.Thr5138Ile
XM_017009967.1:c.15398C>T	XP_016865456.1:p.Thr5133Ile
XM_017009968.2:c.15314C>T	XP_016865457.1:p.Thr5105Ile
XM_017009969.2:c.15494C>T	XP_016865458.1:p.Thr5165Ile
XM_017009971.2:c.*427C>T	XP_016865460.1:n.*427C>T
XM_017009972.1:c.8612C>T	XP_016865461.1:p.Thr2871Ile
XM_017009973.1:c.8591C>T	XP_016865462.1:p.Thr2864Ile
NR_003149.2:n.15489C>T