Canonical Allele Identifier: CA2623023635

Gene: RCBTB1

Linked Data

• gnomAD v4: 13-49544648-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49544648C>A , CM000675.2:g.49544648C>A	GRCh38
NC_000013.10:g.50118784C>A , CM000675.1:g.50118784C>A	GRCh37
NC_000013.9:g.49016785C>A	NCBI36
NG_046892.1:g.45959G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378302.7:c.1172+89G>T MANE Select	ENSP00000367552.2:n.1172+89G>T
ENST00000258646.3:c.1172+89G>T	ENSP00000258646.3:n.1172+89G>T
ENST00000378302.6:c.1172+89G>T	ENSP00000367552.2:n.1172+89G>T
NM_018191.3:c.1172+89G>T	NP_060661.3:n.1172+89G>T
XM_005266441.2:c.1172+89G>T	XP_005266498.1:n.1172+89G>T
XM_011535133.1:c.1172+89G>T	XP_011533435.1:n.1172+89G>T
XM_011535134.1:c.1172+89G>T	XP_011533436.1:n.1172+89G>T
XM_011535135.1:c.785+89G>T	XP_011533437.1:n.785+89G>T
XR_941613.1:n.3745+89G>T
NM_001352500.1:c.1172+89G>T	NP_001339429.1:n.1172+89G>T
NM_001352501.1:c.1172+89G>T	NP_001339430.1:n.1172+89G>T
NM_001352502.1:c.1172+89G>T	NP_001339431.1:n.1172+89G>T
NM_001352503.1:c.1172+89G>T	NP_001339432.1:n.1172+89G>T
NM_001352504.1:c.1172+89G>T	NP_001339433.1:n.1172+89G>T
NM_001352506.1:c.593+89G>T	NP_001339435.1:n.593+89G>T
NR_148015.1:n.1591+89G>T
NR_148016.1:n.1547+89G>T
XM_011535135.2:c.785+89G>T	XP_011533437.1:n.785+89G>T
XR_001749596.1:n.3094+89G>T
NM_018191.4:c.1172+89G>T MANE Select	NP_060661.3:n.1172+89G>T
NM_001352500.2:c.1172+89G>T	NP_001339429.1:n.1172+89G>T
NM_001352501.2:c.1172+89G>T	NP_001339430.1:n.1172+89G>T
NM_001352502.2:c.1172+89G>T	NP_001339431.1:n.1172+89G>T
NM_001352503.2:c.1172+89G>T	NP_001339432.1:n.1172+89G>T
NM_001352506.2:c.593+89G>T	NP_001339435.1:n.593+89G>T
NR_148015.2:n.1566+89G>T
NR_148016.2:n.1522+89G>T
NM_001352504.2:c.1172+89G>T	NP_001339433.1:n.1172+89G>T