Canonical Allele Identifier: CA346761914
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47808174C>A , CM000664.2:g.47808174C>A GRCh38
NC_000002.11:g.48035313C>A , CM000664.1:g.48035313C>A GRCh37
NC_000002.10:g.47888817C>A NCBI36
NG_007111.1:g.30028C>A , LRG_219:g.30028C>A
NG_008397.1:g.102502G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681999.1:n.7083G>T (FBXO11)
ENST00000682451.1:n.2574G>T (FBXO11)
ENST00000682975.1:n.3353G>T (FBXO11)
ENST00000683894.1:c.2557G>T (FBXO11) ENSP00000507789.1:p.Asp853Tyr
ENST00000684085.1:n.6142G>T (FBXO11)
ENST00000684523.1:n.693G>T (FBXO11)
ENST00000684712.1:n.2836G>T (FBXO11)
ENST00000403359.8:c.2728G>T (FBXO11) MANE Select ENSP00000384823.4:p.Asp910Tyr
ENST00000652107.1:c.*1314C>A (MSH6) ENSP00000498629.1:n.*1314C>A
ENST00000234420.9:c.*1314C>A (MSH6) ENSP00000234420.4:n.*1314C>A
ENST00000402508.5:c.2476G>T (FBXO11) ENSP00000385398.1:p.Asp826Tyr
ENST00000403359.7:c.2728G>T (FBXO11) ENSP00000384823.3:p.Asp910Tyr
ENST00000405808.5:c.169+21G>T (FBXO11) ENSP00000385127.1:n.169+21G>T
ENST00000434234.5:c.190G>T (FBXO11) ENSP00000402692.1:p.Asp64Tyr
ENST00000465204.5:n.1736G>T (FBXO11)
NM_001190274.1:c.2728G>T (FBXO11) NP_001177203.1:p.Asp910Tyr
NM_025133.4:c.2476G>T (FBXO11) NP_079409.3:p.Asp826Tyr
XM_005264572.3:c.2809G>T (FBXO11) XP_005264629.1:p.Asp937Tyr
XM_005264573.3:c.2806G>T (FBXO11) XP_005264630.1:p.Asp936Tyr
XM_005264572.5:c.2809G>T (FBXO11) XP_005264629.1:p.Asp937Tyr
XM_005264573.5:c.2806G>T (FBXO11) XP_005264630.1:p.Asp936Tyr
XM_017005015.1:c.2725G>T (FBXO11) XP_016860504.1:p.Asp909Tyr
XM_017005016.2:c.2557G>T (FBXO11) XP_016860505.1:p.Asp853Tyr
XM_017005017.1:c.2476G>T (FBXO11) XP_016860506.1:p.Asp826Tyr
NM_001190274.2:c.2728G>T (FBXO11) MANE Select NP_001177203.1:p.Asp910Tyr
NM_001374325.1:c.2476G>T (FBXO11) NP_001361254.1:p.Asp826Tyr