Canonical Allele Identifier: CA445408696

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2763475
• ClinVar RCV Id: RCV003565106
• MyVariant Identifiers: chr5:g.90002127A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90706310A>C , CM000667.2:g.90706310A>C	GRCh38
NC_000005.9:g.90002127A>C , CM000667.1:g.90002127A>C	GRCh37
NC_000005.8:g.90037883A>C	NCBI36
NG_007083.1:g.152511A>C
NG_007083.2:g.181967A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.8646A>C MANE Select	ENSP00000384582.2:p.Pro2882=
ENST00000639431.1:c.265+30101A>C	ENSP00000491057.1:n.265+30101A>C
ENST00000639473.1:n.4105A>C
ENST00000640012.1:c.2453A>C
ENST00000640374.1:n.1790A>C
ENST00000640403.1:c.5937A>C	ENSP00000492531.1:p.Pro1979=
ENST00000640779.1:c.3375A>C
ENST00000405460.6:c.8646A>C	ENSP00000384582.2:p.Pro2882=
ENST00000509621.1:c.1343A>C
NM_032119.3:c.8646A>C	NP_115495.3:p.Pro2882=
NR_003149.1:n.8659A>C
XM_011543675.1:c.8643A>C	XP_011541977.1:p.Pro2881=
XM_011543676.1:c.8565A>C	XP_011541978.1:p.Pro2855=
XM_011543677.1:c.5949A>C	XP_011541979.1:p.Pro1983=
XM_011543678.1:c.8646A>C	XP_011541980.1:p.Pro2882=
XM_011543679.1:c.8646A>C	XP_011541981.1:p.Pro2882=
NM_032119.4:c.8646A>C MANE Select	NP_115495.3:p.Pro2882=
XM_017009963.2:c.8667A>C	XP_016865452.1:p.Pro2889=
XM_017009964.2:c.8664A>C	XP_016865453.1:p.Pro2888=
XM_017009965.1:c.8664A>C	XP_016865454.1:p.Pro2888=
XM_017009966.2:c.8586A>C	XP_016865455.1:p.Pro2862=
XM_017009967.1:c.8571A>C	XP_016865456.1:p.Pro2857=
XM_017009968.2:c.8667A>C	XP_016865457.1:p.Pro2889=
XM_017009969.2:c.8667A>C	XP_016865458.1:p.Pro2889=
XM_017009970.2:c.8667A>C	XP_016865459.1:p.Pro2889=
XM_017009971.2:c.8667A>C	XP_016865460.1:p.Pro2889=
XM_017009972.1:c.1785A>C	XP_016865461.1:p.Pro595=
XM_017009973.1:c.1764A>C	XP_016865462.1:p.Pro588=
XM_017009974.2:c.8667A>C	XP_016865463.1:p.Pro2889=
NR_003149.2:n.8662A>C