Canonical Allele Identifier: CA11440433

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33398826C>T , CM000665.2:g.33398826C>T GRCh38
NC_000003.11:g.33440318C>T , CM000665.1:g.33440318C>T GRCh37
NC_000003.10:g.33415322C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283629.8:c.1180+1363G>A (UBP1) MANE Select ENSP00000283629.3:n.1180+1363G>A
ENST00000283628.9:c.1180+1363G>A (UBP1) ENSP00000283628.5:n.1180+1363G>A
ENST00000283629.7:c.1180+1363G>A (UBP1) ENSP00000283629.3:n.1180+1363G>A
ENST00000411650.5:c.322+1363G>A (UBP1) ENSP00000393842.1:n.322+1363G>A
ENST00000447368.6:c.1072+1363G>A (UBP1) ENSP00000395558.2:n.1072+1363G>A
ENST00000463736.5:n.1215-4408C>T (FBXL2)
ENST00000486388.5:n.286+1363G>A (UBP1)
ENST00000490112.1:n.79+1363G>A (UBP1)
NM_001128160.1:c.1072+1363G>A (UBP1) NP_001121632.1:n.1072+1363G>A
NM_001128161.1:c.1180+1363G>A (UBP1) NP_001121633.1:n.1180+1363G>A
NM_014517.4:c.1180+1363G>A (UBP1) NP_055332.3:n.1180+1363G>A
XM_011534077.1:c.1081+1363G>A (UBP1) XP_011532379.1:n.1081+1363G>A
XR_427262.2:n.1557-4408C>T (FBXL2)
XR_940498.1:n.1096+1363G>A (UBP1)
NR_146123.1:n.1583+13098C>T (FBXL2)
NR_146124.1:n.1602-4408C>T (FBXL2)
NR_146125.1:n.1584-4408C>T (FBXL2)
NR_146127.1:n.1490-4408C>T (FBXL2)
NR_146128.1:n.1265-4408C>T (FBXL2)
NR_146129.1:n.1541-4408C>T (FBXL2)
NR_146132.1:n.1489+13098C>T (FBXL2)
XM_024453440.1:c.*121-4408C>T (FBXL2) XP_024309208.1:n.*121-4408C>T
XR_001740250.1:n.1342+1363G>A (UBP1)
XR_001740251.2:n.1372+1363G>A (UBP1)
XR_001740252.2:n.1264+1363G>A (UBP1)
NM_014517.5:c.1180+1363G>A (UBP1) MANE Select NP_055332.3:n.1180+1363G>A
NR_146123.2:n.1557+13098C>T (FBXL2)
NR_146132.2:n.1463+13098C>T (FBXL2)
NM_001128160.2:c.1072+1363G>A (UBP1) NP_001121632.1:n.1072+1363G>A
NM_001128161.2:c.1180+1363G>A (UBP1) NP_001121633.1:n.1180+1363G>A
NR_146124.2:n.1576-4408C>T (FBXL2)
NR_146125.2:n.1558-4408C>T (FBXL2)
NR_146127.2:n.1464-4408C>T (FBXL2)
NR_146128.2:n.1239-4408C>T (FBXL2)
NR_146129.2:n.1515-4408C>T (FBXL2)