Canonical Allele Identifier: CA10586160

Gene: RCBTB1

Linked Data

• ClinVar Variation Id: 253020
• ClinVar RCV Id: RCV000239603 ; RCV000258092
• dbSNP Id: rs879255547
• MyVariant Identifiers: chr13:g.50118881C>A (hg19) ; chr13:g.49544745C>A (hg38)
• PubMed: PMID:27486781

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49544745C>A , CM000675.2:g.49544745C>A	GRCh38
NC_000013.10:g.50118881C>A , CM000675.1:g.50118881C>A	GRCh37
NC_000013.9:g.49016882C>A	NCBI36
NG_046892.1:g.45862G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378302.7:c.1164G>T MANE Select	ENSP00000367552.2:p.Leu388Phe
ENST00000258646.3:c.1164G>T	ENSP00000258646.3:p.Leu388Phe
ENST00000378302.6:c.1164G>T	ENSP00000367552.2:p.Leu388Phe
NM_018191.3:c.1164G>T	NP_060661.3:p.Leu388Phe
XM_005266441.2:c.1164G>T	XP_005266498.1:p.Leu388Phe
XM_011535133.1:c.1164G>T	XP_011533435.1:p.Leu388Phe
XM_011535134.1:c.1164G>T	XP_011533436.1:p.Leu388Phe
XM_011535135.1:c.777G>T	XP_011533437.1:p.Leu259Phe
XR_941613.1:n.3737G>T
NM_001352500.1:c.1164G>T	NP_001339429.1:p.Leu388Phe
NM_001352501.1:c.1164G>T	NP_001339430.1:p.Leu388Phe
NM_001352502.1:c.1164G>T	NP_001339431.1:p.Leu388Phe
NM_001352503.1:c.1164G>T	NP_001339432.1:p.Leu388Phe
NM_001352504.1:c.1164G>T	NP_001339433.1:p.Leu388Phe
NM_001352506.1:c.585G>T	NP_001339435.1:p.Leu195Phe
NR_148015.1:n.1583G>T
NR_148016.1:n.1539G>T
XM_011535135.2:c.777G>T	XP_011533437.1:p.Leu259Phe
XR_001749596.1:n.3086G>T
NM_018191.4:c.1164G>T MANE Select	NP_060661.3:p.Leu388Phe
NM_001352500.2:c.1164G>T	NP_001339429.1:p.Leu388Phe
NM_001352501.2:c.1164G>T	NP_001339430.1:p.Leu388Phe
NM_001352502.2:c.1164G>T	NP_001339431.1:p.Leu388Phe
NM_001352503.2:c.1164G>T	NP_001339432.1:p.Leu388Phe
NM_001352506.2:c.585G>T	NP_001339435.1:p.Leu195Phe
NR_148015.2:n.1558G>T
NR_148016.2:n.1514G>T
NM_001352504.2:c.1164G>T	NP_001339433.1:p.Leu388Phe