Canonical Allele Identifier: CA388188395

Gene: RCBTB1

Linked Data

• gnomAD v4: 13-49544753-C-T
• MyVariant Identifiers: chr13:g.50118889C>T (hg19) ; chr13:g.49544753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49544753C>T , CM000675.2:g.49544753C>T	GRCh38
NC_000013.10:g.50118889C>T , CM000675.1:g.50118889C>T	GRCh37
NC_000013.9:g.49016890C>T	NCBI36
NG_046892.1:g.45854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378302.7:c.1156G>A MANE Select	ENSP00000367552.2:p.Ala386Thr
ENST00000258646.3:c.1156G>A	ENSP00000258646.3:p.Ala386Thr
ENST00000378302.6:c.1156G>A	ENSP00000367552.2:p.Ala386Thr
NM_018191.3:c.1156G>A	NP_060661.3:p.Ala386Thr
XM_005266441.2:c.1156G>A	XP_005266498.1:p.Ala386Thr
XM_011535133.1:c.1156G>A	XP_011533435.1:p.Ala386Thr
XM_011535134.1:c.1156G>A	XP_011533436.1:p.Ala386Thr
XM_011535135.1:c.769G>A	XP_011533437.1:p.Ala257Thr
XR_941613.1:n.3729G>A
NM_001352500.1:c.1156G>A	NP_001339429.1:p.Ala386Thr
NM_001352501.1:c.1156G>A	NP_001339430.1:p.Ala386Thr
NM_001352502.1:c.1156G>A	NP_001339431.1:p.Ala386Thr
NM_001352503.1:c.1156G>A	NP_001339432.1:p.Ala386Thr
NM_001352504.1:c.1156G>A	NP_001339433.1:p.Ala386Thr
NM_001352506.1:c.577G>A	NP_001339435.1:p.Ala193Thr
NR_148015.1:n.1575G>A
NR_148016.1:n.1531G>A
XM_011535135.2:c.769G>A	XP_011533437.1:p.Ala257Thr
XR_001749596.1:n.3078G>A
NM_018191.4:c.1156G>A MANE Select	NP_060661.3:p.Ala386Thr
NM_001352500.2:c.1156G>A	NP_001339429.1:p.Ala386Thr
NM_001352501.2:c.1156G>A	NP_001339430.1:p.Ala386Thr
NM_001352502.2:c.1156G>A	NP_001339431.1:p.Ala386Thr
NM_001352503.2:c.1156G>A	NP_001339432.1:p.Ala386Thr
NM_001352506.2:c.577G>A	NP_001339435.1:p.Ala193Thr
NR_148015.2:n.1550G>A
NR_148016.2:n.1506G>A
NM_001352504.2:c.1156G>A	NP_001339433.1:p.Ala386Thr