Canonical Allele Identifier: CA388189781

Gene: RCBTB1

Linked Data

• COSMIC: COSM6074564
• MyVariant Identifiers: chr13:g.50123709C>G (hg19) ; chr13:g.49549573C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49549573C>G , CM000675.2:g.49549573C>G	GRCh38
NC_000013.10:g.50123709C>G , CM000675.1:g.50123709C>G	GRCh37
NC_000013.9:g.49021710C>G	NCBI36
NG_046892.1:g.41034G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378302.7:c.930G>C MANE Select	ENSP00000367552.2:p.Trp310Cys
ENST00000258646.3:c.930G>C	ENSP00000258646.3:p.Trp310Cys
ENST00000378302.6:c.930G>C	ENSP00000367552.2:p.Trp310Cys
NM_018191.3:c.930G>C	NP_060661.3:p.Trp310Cys
XM_005266441.2:c.930G>C	XP_005266498.1:p.Trp310Cys
XM_011535133.1:c.930G>C	XP_011533435.1:p.Trp310Cys
XM_011535134.1:c.930G>C	XP_011533436.1:p.Trp310Cys
XM_011535135.1:c.543G>C	XP_011533437.1:p.Trp181Cys
XM_011535136.1:c.*117G>C	XP_011533438.1:n.*117G>C
XR_245392.1:n.1407G>C
XR_941613.1:n.1195G>C
NM_001352500.1:c.930G>C	NP_001339429.1:p.Trp310Cys
NM_001352501.1:c.930G>C	NP_001339430.1:p.Trp310Cys
NM_001352502.1:c.930G>C	NP_001339431.1:p.Trp310Cys
NM_001352503.1:c.930G>C	NP_001339432.1:p.Trp310Cys
NM_001352504.1:c.930G>C	NP_001339433.1:p.Trp310Cys
NM_001352505.1:c.930G>C	NP_001339434.1:p.Trp310Cys
NM_001352506.1:c.351G>C	NP_001339435.1:p.Trp117Cys
NR_148015.1:n.1349G>C
NR_148016.1:n.1305G>C
XM_011535135.2:c.543G>C	XP_011533437.1:p.Trp181Cys
XM_011535136.2:c.*117G>C	XP_011533438.1:n.*117G>C
XR_001749596.1:n.1195G>C
NM_018191.4:c.930G>C MANE Select	NP_060661.3:p.Trp310Cys
NM_001352500.2:c.930G>C	NP_001339429.1:p.Trp310Cys
NM_001352501.2:c.930G>C	NP_001339430.1:p.Trp310Cys
NM_001352502.2:c.930G>C	NP_001339431.1:p.Trp310Cys
NM_001352503.2:c.930G>C	NP_001339432.1:p.Trp310Cys
NM_001352505.2:c.930G>C	NP_001339434.1:p.Trp310Cys
NM_001352506.2:c.351G>C	NP_001339435.1:p.Trp117Cys
NR_148015.2:n.1324G>C
NR_148016.2:n.1280G>C
NM_001352504.2:c.930G>C	NP_001339433.1:p.Trp310Cys