Canonical Allele Identifier: CA388188362
Gene: RCBTB1 HGNC NCBI

Linked Data

COSMIC: COSM947892

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.49544737C>T , CM000675.2:g.49544737C>T GRCh38
NC_000013.10:g.50118873C>T , CM000675.1:g.50118873C>T GRCh37
NC_000013.9:g.49016874C>T NCBI36
NG_046892.1:g.45870G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378302.7:c.1172G>A MANE Select ENSP00000367552.2:p.Arg391Lys
ENST00000258646.3:c.1172G>A ENSP00000258646.3:p.Arg391Lys
ENST00000378302.6:c.1172G>A ENSP00000367552.2:p.Arg391Lys
NM_018191.3:c.1172G>A NP_060661.3:p.Arg391Lys
XM_005266441.2:c.1172G>A XP_005266498.1:p.Arg391Lys
XM_011535133.1:c.1172G>A XP_011533435.1:p.Arg391Lys
XM_011535134.1:c.1172G>A XP_011533436.1:p.Arg391Lys
XM_011535135.1:c.785G>A XP_011533437.1:p.Arg262Lys
XR_941613.1:n.3745G>A
NM_001352500.1:c.1172G>A NP_001339429.1:p.Arg391Lys
NM_001352501.1:c.1172G>A NP_001339430.1:p.Arg391Lys
NM_001352502.1:c.1172G>A NP_001339431.1:p.Arg391Lys
NM_001352503.1:c.1172G>A NP_001339432.1:p.Arg391Lys
NM_001352504.1:c.1172G>A NP_001339433.1:p.Arg391Lys
NM_001352506.1:c.593G>A NP_001339435.1:p.Arg198Lys
NR_148015.1:n.1591G>A
NR_148016.1:n.1547G>A
XM_011535135.2:c.785G>A XP_011533437.1:p.Arg262Lys
XR_001749596.1:n.3094G>A
NM_018191.4:c.1172G>A MANE Select NP_060661.3:p.Arg391Lys
NM_001352500.2:c.1172G>A NP_001339429.1:p.Arg391Lys
NM_001352501.2:c.1172G>A NP_001339430.1:p.Arg391Lys
NM_001352502.2:c.1172G>A NP_001339431.1:p.Arg391Lys
NM_001352503.2:c.1172G>A NP_001339432.1:p.Arg391Lys
NM_001352506.2:c.593G>A NP_001339435.1:p.Arg198Lys
NR_148015.2:n.1566G>A
NR_148016.2:n.1522G>A
NM_001352504.2:c.1172G>A NP_001339433.1:p.Arg391Lys