Canonical Allele Identifier: CA2090500378
Gene: RCBTB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.49549584C= , CM000675.2:g.49549584C= GRCh38
NC_000013.10:g.50123720C= , CM000675.1:g.50123720C= GRCh37
NC_000013.9:g.49021721C= NCBI36
NG_046892.1:g.41023G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378302.7:c.919G= MANE Select ENSP00000367552.2:p.Val307=
ENST00000258646.3:c.919G= ENSP00000258646.3:p.Val307=
ENST00000378302.6:c.919G= ENSP00000367552.2:p.Val307=
NM_018191.3:c.919G= NP_060661.3:p.Val307=
XM_005266441.2:c.919G= XP_005266498.1:p.Val307=
XM_011535133.1:c.919G= XP_011533435.1:p.Val307=
XM_011535134.1:c.919G= XP_011533436.1:p.Val307=
XM_011535135.1:c.532G= XP_011533437.1:p.Val178=
XM_011535136.1:c.*106G= XP_011533438.1:n.*106G=
XR_245392.1:n.1396G=
XR_941613.1:n.1184G=
XR_941614.1:n.1342G=
NM_001352500.1:c.919G= NP_001339429.1:p.Val307=
NM_001352501.1:c.919G= NP_001339430.1:p.Val307=
NM_001352502.1:c.919G= NP_001339431.1:p.Val307=
NM_001352503.1:c.919G= NP_001339432.1:p.Val307=
NM_001352504.1:c.919G= NP_001339433.1:p.Val307=
NM_001352505.1:c.919G= NP_001339434.1:p.Val307=
NM_001352506.1:c.340G= NP_001339435.1:p.Val114=
NR_148015.1:n.1338G=
NR_148016.1:n.1294G=
XM_011535135.2:c.532G= XP_011533437.1:p.Val178=
XM_011535136.2:c.*106G= XP_011533438.1:n.*106G=
XR_001749596.1:n.1184G=
NM_018191.4:c.919G= MANE Select NP_060661.3:p.Val307=
NM_001352500.2:c.919G= NP_001339429.1:p.Val307=
NM_001352501.2:c.919G= NP_001339430.1:p.Val307=
NM_001352502.2:c.919G= NP_001339431.1:p.Val307=
NM_001352503.2:c.919G= NP_001339432.1:p.Val307=
NM_001352505.2:c.919G= NP_001339434.1:p.Val307=
NM_001352506.2:c.340G= NP_001339435.1:p.Val114=
NR_148015.2:n.1313G=
NR_148016.2:n.1269G=
NM_001352504.2:c.919G= NP_001339433.1:p.Val307=