Canonical Allele Identifier: CA388188370

Gene: RCBTB1

Linked Data

• MyVariant Identifiers: chr13:g.50118877T>A (hg19) ; chr13:g.49544741T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49544741T>A , CM000675.2:g.49544741T>A	GRCh38
NC_000013.10:g.50118877T>A , CM000675.1:g.50118877T>A	GRCh37
NC_000013.9:g.49016878T>A	NCBI36
NG_046892.1:g.45866A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378302.7:c.1168A>T MANE Select	ENSP00000367552.2:p.Ile390Phe
ENST00000258646.3:c.1168A>T	ENSP00000258646.3:p.Ile390Phe
ENST00000378302.6:c.1168A>T	ENSP00000367552.2:p.Ile390Phe
NM_018191.3:c.1168A>T	NP_060661.3:p.Ile390Phe
XM_005266441.2:c.1168A>T	XP_005266498.1:p.Ile390Phe
XM_011535133.1:c.1168A>T	XP_011533435.1:p.Ile390Phe
XM_011535134.1:c.1168A>T	XP_011533436.1:p.Ile390Phe
XM_011535135.1:c.781A>T	XP_011533437.1:p.Ile261Phe
XR_941613.1:n.3741A>T
NM_001352500.1:c.1168A>T	NP_001339429.1:p.Ile390Phe
NM_001352501.1:c.1168A>T	NP_001339430.1:p.Ile390Phe
NM_001352502.1:c.1168A>T	NP_001339431.1:p.Ile390Phe
NM_001352503.1:c.1168A>T	NP_001339432.1:p.Ile390Phe
NM_001352504.1:c.1168A>T	NP_001339433.1:p.Ile390Phe
NM_001352506.1:c.589A>T	NP_001339435.1:p.Ile197Phe
NR_148015.1:n.1587A>T
NR_148016.1:n.1543A>T
XM_011535135.2:c.781A>T	XP_011533437.1:p.Ile261Phe
XR_001749596.1:n.3090A>T
NM_018191.4:c.1168A>T MANE Select	NP_060661.3:p.Ile390Phe
NM_001352500.2:c.1168A>T	NP_001339429.1:p.Ile390Phe
NM_001352501.2:c.1168A>T	NP_001339430.1:p.Ile390Phe
NM_001352502.2:c.1168A>T	NP_001339431.1:p.Ile390Phe
NM_001352503.2:c.1168A>T	NP_001339432.1:p.Ile390Phe
NM_001352506.2:c.589A>T	NP_001339435.1:p.Ile197Phe
NR_148015.2:n.1562A>T
NR_148016.2:n.1518A>T
NM_001352504.2:c.1168A>T	NP_001339433.1:p.Ile390Phe