Canonical Allele Identifier: CA445436498

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1019134495
• gnomAD v2: 5-90119284-C-T
• gnomAD v3: 5-90823467-C-T
• gnomAD v4: 5-90823467-C-T
• MyVariant Identifiers: chr5:g.90119284C>T (hg19) ; chr5:g.90823467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823467C>T , CM000667.2:g.90823467C>T	GRCh38
NC_000005.9:g.90119284C>T , CM000667.1:g.90119284C>T	GRCh37
NC_000005.8:g.90155040C>T	NCBI36
NG_007083.1:g.269668C>T
NG_007083.2:g.299124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16239C>T MANE Select	ENSP00000384582.2:p.Asn5413=
ENST00000425867.3:c.5193C>T	ENSP00000392618.3:p.Asn1731=
ENST00000638510.1:n.3506C>T
ENST00000639431.1:c.265+147258C>T	ENSP00000491057.1:n.265+147258C>T
ENST00000640061.1:n.128+1285C>T
ENST00000640407.1:c.2649C>T	ENSP00000491425.1:p.Asn883=
ENST00000405460.6:c.16239C>T	ENSP00000384582.2:p.Asn5413=
ENST00000425867.2:c.3222C>T	ENSP00000392618.2:p.Asn1074=
NM_032119.3:c.16239C>T	NP_115495.3:p.Asn5413=
NR_003149.1:n.16252C>T
XM_011543675.1:c.16236C>T	XP_011541977.1:p.Asn5412=
XM_011543676.1:c.16158C>T	XP_011541978.1:p.Asn5386=
XM_011543677.1:c.13542C>T	XP_011541979.1:p.Asn4514=
NM_032119.4:c.16239C>T MANE Select	NP_115495.3:p.Asn5413=
XM_017009963.2:c.16260C>T	XP_016865452.1:p.Asn5420=
XM_017009964.2:c.16257C>T	XP_016865453.1:p.Asn5419=
XM_017009965.1:c.16257C>T	XP_016865454.1:p.Asn5419=
XM_017009966.2:c.16179C>T	XP_016865455.1:p.Asn5393=
XM_017009967.1:c.16164C>T	XP_016865456.1:p.Asn5388=
XM_017009968.2:c.16080C>T	XP_016865457.1:p.Asn5360=
XM_017009969.2:c.16260C>T	XP_016865458.1:p.Asn5420=
XM_017009972.1:c.9378C>T	XP_016865461.1:p.Asn3126=
XM_017009973.1:c.9357C>T	XP_016865462.1:p.Asn3119=
NR_003149.2:n.16255C>T