Canonical Allele Identifier: CA388188364

Gene: RCBTB1

Linked Data

• dbSNP Id: rs1317410459
• MyVariant Identifiers: chr13:g.50118875G>C (hg19) ; chr13:g.49544739G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49544739G>C , CM000675.2:g.49544739G>C	GRCh38
NC_000013.10:g.50118875G>C , CM000675.1:g.50118875G>C	GRCh37
NC_000013.9:g.49016876G>C	NCBI36
NG_046892.1:g.45868C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378302.7:c.1170C>G MANE Select	ENSP00000367552.2:p.Ile390Met
ENST00000258646.3:c.1170C>G	ENSP00000258646.3:p.Ile390Met
ENST00000378302.6:c.1170C>G	ENSP00000367552.2:p.Ile390Met
NM_018191.3:c.1170C>G	NP_060661.3:p.Ile390Met
XM_005266441.2:c.1170C>G	XP_005266498.1:p.Ile390Met
XM_011535133.1:c.1170C>G	XP_011533435.1:p.Ile390Met
XM_011535134.1:c.1170C>G	XP_011533436.1:p.Ile390Met
XM_011535135.1:c.783C>G	XP_011533437.1:p.Ile261Met
XR_941613.1:n.3743C>G
NM_001352500.1:c.1170C>G	NP_001339429.1:p.Ile390Met
NM_001352501.1:c.1170C>G	NP_001339430.1:p.Ile390Met
NM_001352502.1:c.1170C>G	NP_001339431.1:p.Ile390Met
NM_001352503.1:c.1170C>G	NP_001339432.1:p.Ile390Met
NM_001352504.1:c.1170C>G	NP_001339433.1:p.Ile390Met
NM_001352506.1:c.591C>G	NP_001339435.1:p.Ile197Met
NR_148015.1:n.1589C>G
NR_148016.1:n.1545C>G
XM_011535135.2:c.783C>G	XP_011533437.1:p.Ile261Met
XR_001749596.1:n.3092C>G
NM_018191.4:c.1170C>G MANE Select	NP_060661.3:p.Ile390Met
NM_001352500.2:c.1170C>G	NP_001339429.1:p.Ile390Met
NM_001352501.2:c.1170C>G	NP_001339430.1:p.Ile390Met
NM_001352502.2:c.1170C>G	NP_001339431.1:p.Ile390Met
NM_001352503.2:c.1170C>G	NP_001339432.1:p.Ile390Met
NM_001352506.2:c.591C>G	NP_001339435.1:p.Ile197Met
NR_148015.2:n.1564C>G
NR_148016.2:n.1520C>G
NM_001352504.2:c.1170C>G	NP_001339433.1:p.Ile390Met