Canonical Allele Identifier: CA3340384
Community Standard Title: NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90710998G>A , CM000667.2:g.90710998G>A GRCh38
NC_000005.9:g.90006815G>A , CM000667.1:g.90006815G>A GRCh37
NC_000005.8:g.90042571G>A NCBI36
NG_007083.1:g.157199G>A
NG_007083.2:g.186655G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.8842G>A MANE Select NP_115495.3:p.Ala2948Thr
ENST00000405460.9:c.8842G>A MANE Select ENSP00000384582.2:p.Ala2948Thr
NM_032119.3:c.8842G>A NP_115495.3:p.Ala2948Thr
NR_003149.1:n.8855G>A
NR_003149.2:n.8858G>A
ENST00000405460.6:c.8842G>A ENSP00000384582.2:p.Ala2948Thr
ENST00000509621.1:c.1539G>A
ENST00000639431.1:c.265+34789G>A ENSP00000491057.1:n.265+34789G>A
ENST00000639473.1:n.4301G>A
ENST00000640012.1:c.2649G>A
ENST00000640374.1:n.1986G>A
ENST00000640779.1:c.3571G>A
XM_011543675.1:c.8839G>A XP_011541977.1:p.Ala2947Thr
XM_011543676.1:c.8761G>A XP_011541978.1:p.Ala2921Thr
XM_011543677.1:c.6145G>A XP_011541979.1:p.Ala2049Thr
XM_011543678.1:c.8842G>A XP_011541980.1:p.Ala2948Thr
XM_011543679.1:c.8842G>A XP_011541981.1:p.Ala2948Thr
XM_017009963.2:c.8863G>A XP_016865452.1:p.Ala2955Thr
XM_017009964.2:c.8860G>A XP_016865453.1:p.Ala2954Thr
XM_017009965.1:c.8860G>A XP_016865454.1:p.Ala2954Thr
XM_017009966.2:c.8782G>A XP_016865455.1:p.Ala2928Thr
XM_017009967.1:c.8767G>A XP_016865456.1:p.Ala2923Thr
XM_017009968.2:c.8863G>A XP_016865457.1:p.Ala2955Thr
XM_017009969.2:c.8863G>A XP_016865458.1:p.Ala2955Thr
XM_017009970.2:c.8863G>A XP_016865459.1:p.Ala2955Thr
XM_017009971.2:c.8863G>A XP_016865460.1:p.Ala2955Thr
XM_017009972.1:c.1981G>A XP_016865461.1:p.Ala661Thr
XM_017009973.1:c.1960G>A XP_016865462.1:p.Ala654Thr
XM_017009974.2:c.8863G>A XP_016865463.1:p.Ala2955Thr