Canonical Allele Identifier: CA360409688

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 905035
• ClinVar RCV Id: RCV001346186
• dbSNP Id: rs1472004831
• gnomAD v2: 5-90106553-C-T
• gnomAD v4: 5-90810736-C-T
• MyVariant Identifiers: chr5:g.90106553C>T (hg19) ; chr5:g.90810736C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90810736C>T , CM000667.2:g.90810736C>T	GRCh38
NC_000005.9:g.90106553C>T , CM000667.1:g.90106553C>T	GRCh37
NC_000005.8:g.90142309C>T	NCBI36
NG_007083.1:g.256937C>T
NG_007083.2:g.286393C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.15476C>T MANE Select	ENSP00000384582.2:p.Thr5159Ile
ENST00000425867.3:c.4430C>T	ENSP00000392618.3:p.Thr1477Ile
ENST00000638510.1:n.2743C>T
ENST00000639431.1:c.265+134527C>T	ENSP00000491057.1:n.265+134527C>T
ENST00000640407.1:c.1886C>T	ENSP00000491425.1:p.Thr629Ile
ENST00000405460.6:c.15476C>T	ENSP00000384582.2:p.Thr5159Ile
ENST00000425867.2:c.2459C>T	ENSP00000392618.2:p.Thr820Ile
NM_032119.3:c.15476C>T	NP_115495.3:p.Thr5159Ile
NR_003149.1:n.15489C>T
XM_011543675.1:c.15473C>T	XP_011541977.1:p.Thr5158Ile
XM_011543676.1:c.15395C>T	XP_011541978.1:p.Thr5132Ile
XM_011543677.1:c.12779C>T	XP_011541979.1:p.Thr4260Ile
NM_032119.4:c.15476C>T MANE Select	NP_115495.3:p.Thr5159Ile
XM_017009963.2:c.15497C>T	XP_016865452.1:p.Thr5166Ile
XM_017009964.2:c.15494C>T	XP_016865453.1:p.Thr5165Ile
XM_017009965.1:c.15494C>T	XP_016865454.1:p.Thr5165Ile
XM_017009966.2:c.15416C>T	XP_016865455.1:p.Thr5139Ile
XM_017009967.1:c.15401C>T	XP_016865456.1:p.Thr5134Ile
XM_017009968.2:c.15317C>T	XP_016865457.1:p.Thr5106Ile
XM_017009969.2:c.15497C>T	XP_016865458.1:p.Thr5166Ile
XM_017009971.2:c.*430C>T	XP_016865460.1:n.*430C>T
XM_017009972.1:c.8615C>T	XP_016865461.1:p.Thr2872Ile
XM_017009973.1:c.8594C>T	XP_016865462.1:p.Thr2865Ile
NR_003149.2:n.15492C>T