Canonical Allele Identifier: CA3338483

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2037734
• ClinVar RCV Id: RCV002890183
• dbSNP Id: rs749359697
• ExAC: 5:89918431 G / T
• gnomAD v2: 5-89918431-G-T
• gnomAD v3: 5-90622614-G-T
• gnomAD v4: 5-90622614-G-T
• MyVariant Identifiers: chr5:g.89918431G>T (hg19) ; chr5:g.90622614G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90622614G>T , CM000667.2:g.90622614G>T	GRCh38
NC_000005.9:g.89918431G>T , CM000667.1:g.89918431G>T	GRCh37
NC_000005.8:g.89954187G>T	NCBI36
NG_007083.1:g.68815G>T
NG_007083.2:g.98271G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.471G>T MANE Select	ENSP00000384582.2:p.Val157=
ENST00000638316.1:n.681G>T
ENST00000638638.1:n.878G>T
ENST00000640083.1:n.176G>T
ENST00000640109.1:n.567G>T
ENST00000640281.1:n.530G>T
ENST00000405460.6:c.471G>T	ENSP00000384582.2:p.Val157=
ENST00000508842.5:c.387G>T	ENSP00000425936.1:p.Val129=
NM_032119.3:c.471G>T	NP_115495.3:p.Val157=
NR_003149.1:n.567G>T
XM_011543675.1:c.471G>T	XP_011541977.1:p.Val157=
XM_011543676.1:c.471G>T	XP_011541978.1:p.Val157=
XM_011543678.1:c.471G>T	XP_011541980.1:p.Val157=
XM_011543679.1:c.471G>T	XP_011541981.1:p.Val157=
NM_032119.4:c.471G>T MANE Select	NP_115495.3:p.Val157=
XM_017009963.2:c.471G>T	XP_016865452.1:p.Val157=
XM_017009964.2:c.471G>T	XP_016865453.1:p.Val157=
XM_017009965.1:c.468G>T	XP_016865454.1:p.Val156=
XM_017009966.2:c.471G>T	XP_016865455.1:p.Val157=
XM_017009967.1:c.375G>T	XP_016865456.1:p.Val125=
XM_017009968.2:c.471G>T	XP_016865457.1:p.Val157=
XM_017009969.2:c.471G>T	XP_016865458.1:p.Val157=
XM_017009970.2:c.471G>T	XP_016865459.1:p.Val157=
XM_017009971.2:c.471G>T	XP_016865460.1:p.Val157=
XM_017009974.2:c.471G>T	XP_016865463.1:p.Val157=
NR_003149.2:n.570G>T