Canonical Allele Identifier: CA388188421

Gene: RCBTB1

Linked Data

• gnomAD v4: 13-49544765-G-C
• MyVariant Identifiers: chr13:g.50118901G>C (hg19) ; chr13:g.49544765G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49544765G>C , CM000675.2:g.49544765G>C	GRCh38
NC_000013.10:g.50118901G>C , CM000675.1:g.50118901G>C	GRCh37
NC_000013.9:g.49016902G>C	NCBI36
NG_046892.1:g.45842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378302.7:c.1144C>G MANE Select	ENSP00000367552.2:p.His382Asp
ENST00000258646.3:c.1144C>G	ENSP00000258646.3:p.His382Asp
ENST00000378302.6:c.1144C>G	ENSP00000367552.2:p.His382Asp
NM_018191.3:c.1144C>G	NP_060661.3:p.His382Asp
XM_005266441.2:c.1144C>G	XP_005266498.1:p.His382Asp
XM_011535133.1:c.1144C>G	XP_011533435.1:p.His382Asp
XM_011535134.1:c.1144C>G	XP_011533436.1:p.His382Asp
XM_011535135.1:c.757C>G	XP_011533437.1:p.His253Asp
XR_941613.1:n.3717C>G
NM_001352500.1:c.1144C>G	NP_001339429.1:p.His382Asp
NM_001352501.1:c.1144C>G	NP_001339430.1:p.His382Asp
NM_001352502.1:c.1144C>G	NP_001339431.1:p.His382Asp
NM_001352503.1:c.1144C>G	NP_001339432.1:p.His382Asp
NM_001352504.1:c.1144C>G	NP_001339433.1:p.His382Asp
NM_001352506.1:c.565C>G	NP_001339435.1:p.His189Asp
NR_148015.1:n.1563C>G
NR_148016.1:n.1519C>G
XM_011535135.2:c.757C>G	XP_011533437.1:p.His253Asp
XR_001749596.1:n.3066C>G
NM_018191.4:c.1144C>G MANE Select	NP_060661.3:p.His382Asp
NM_001352500.2:c.1144C>G	NP_001339429.1:p.His382Asp
NM_001352501.2:c.1144C>G	NP_001339430.1:p.His382Asp
NM_001352502.2:c.1144C>G	NP_001339431.1:p.His382Asp
NM_001352503.2:c.1144C>G	NP_001339432.1:p.His382Asp
NM_001352506.2:c.565C>G	NP_001339435.1:p.His189Asp
NR_148015.2:n.1538C>G
NR_148016.2:n.1494C>G
NM_001352504.2:c.1144C>G	NP_001339433.1:p.His382Asp