Canonical Allele Identifier: CA2623023694

Gene: RCBTB1

Linked Data

• gnomAD v4: 13-49544682-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49544682A>G , CM000675.2:g.49544682A>G	GRCh38
NC_000013.10:g.50118818A>G , CM000675.1:g.50118818A>G	GRCh37
NC_000013.9:g.49016819A>G	NCBI36
NG_046892.1:g.45925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378302.7:c.1172+55T>C MANE Select	ENSP00000367552.2:n.1172+55T>C
ENST00000258646.3:c.1172+55T>C	ENSP00000258646.3:n.1172+55T>C
ENST00000378302.6:c.1172+55T>C	ENSP00000367552.2:n.1172+55T>C
NM_018191.3:c.1172+55T>C	NP_060661.3:n.1172+55T>C
XM_005266441.2:c.1172+55T>C	XP_005266498.1:n.1172+55T>C
XM_011535133.1:c.1172+55T>C	XP_011533435.1:n.1172+55T>C
XM_011535134.1:c.1172+55T>C	XP_011533436.1:n.1172+55T>C
XM_011535135.1:c.785+55T>C	XP_011533437.1:n.785+55T>C
XR_941613.1:n.3745+55T>C
NM_001352500.1:c.1172+55T>C	NP_001339429.1:n.1172+55T>C
NM_001352501.1:c.1172+55T>C	NP_001339430.1:n.1172+55T>C
NM_001352502.1:c.1172+55T>C	NP_001339431.1:n.1172+55T>C
NM_001352503.1:c.1172+55T>C	NP_001339432.1:n.1172+55T>C
NM_001352504.1:c.1172+55T>C	NP_001339433.1:n.1172+55T>C
NM_001352506.1:c.593+55T>C	NP_001339435.1:n.593+55T>C
NR_148015.1:n.1591+55T>C
NR_148016.1:n.1547+55T>C
XM_011535135.2:c.785+55T>C	XP_011533437.1:n.785+55T>C
XR_001749596.1:n.3094+55T>C
NM_018191.4:c.1172+55T>C MANE Select	NP_060661.3:n.1172+55T>C
NM_001352500.2:c.1172+55T>C	NP_001339429.1:n.1172+55T>C
NM_001352501.2:c.1172+55T>C	NP_001339430.1:n.1172+55T>C
NM_001352502.2:c.1172+55T>C	NP_001339431.1:n.1172+55T>C
NM_001352503.2:c.1172+55T>C	NP_001339432.1:n.1172+55T>C
NM_001352506.2:c.593+55T>C	NP_001339435.1:n.593+55T>C
NR_148015.2:n.1566+55T>C
NR_148016.2:n.1522+55T>C
NM_001352504.2:c.1172+55T>C	NP_001339433.1:n.1172+55T>C