Canonical Allele Identifier: CA6982724

Gene: RCBTB1

Linked Data

• ClinVar Variation Id: 253018
• ClinVar RCV Id: RCV000239605 ; RCV000258084 ; RCV001857843
• dbSNP Id: rs200826424
• ExAC: 13:50123666 G / A
• gnomAD v2: 13-50123666-G-A
• gnomAD v3: 13-49549530-G-A
• gnomAD v4: 13-49549530-G-A
• MyVariant Identifiers: chr13:g.50123666G>A (hg19) ; chr13:g.49549530G>A (hg38)
• PubMed: PMID:27486781

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49549530G>A , CM000675.2:g.49549530G>A	GRCh38
NC_000013.10:g.50123666G>A , CM000675.1:g.50123666G>A	GRCh37
NC_000013.9:g.49021667G>A	NCBI36
NG_046892.1:g.41077C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378302.7:c.973C>T MANE Select	ENSP00000367552.2:p.His325Tyr
ENST00000258646.3:c.973C>T	ENSP00000258646.3:p.His325Tyr
ENST00000378302.6:c.973C>T	ENSP00000367552.2:p.His325Tyr
NM_018191.3:c.973C>T	NP_060661.3:p.His325Tyr
XM_005266441.2:c.973C>T	XP_005266498.1:p.His325Tyr
XM_011535133.1:c.973C>T	XP_011533435.1:p.His325Tyr
XM_011535134.1:c.973C>T	XP_011533436.1:p.His325Tyr
XM_011535135.1:c.586C>T	XP_011533437.1:p.His196Tyr
XR_941613.1:n.1238C>T
NM_001352500.1:c.973C>T	NP_001339429.1:p.His325Tyr
NM_001352501.1:c.973C>T	NP_001339430.1:p.His325Tyr
NM_001352502.1:c.973C>T	NP_001339431.1:p.His325Tyr
NM_001352503.1:c.973C>T	NP_001339432.1:p.His325Tyr
NM_001352504.1:c.973C>T	NP_001339433.1:p.His325Tyr
NM_001352505.1:c.973C>T	NP_001339434.1:p.His325Tyr
NM_001352506.1:c.394C>T	NP_001339435.1:p.His132Tyr
NR_148015.1:n.1392C>T
NR_148016.1:n.1348C>T
XM_011535135.2:c.586C>T	XP_011533437.1:p.His196Tyr
XR_001749596.1:n.1238C>T
NM_018191.4:c.973C>T MANE Select	NP_060661.3:p.His325Tyr
NM_001352500.2:c.973C>T	NP_001339429.1:p.His325Tyr
NM_001352501.2:c.973C>T	NP_001339430.1:p.His325Tyr
NM_001352502.2:c.973C>T	NP_001339431.1:p.His325Tyr
NM_001352503.2:c.973C>T	NP_001339432.1:p.His325Tyr
NM_001352505.2:c.973C>T	NP_001339434.1:p.His325Tyr
NM_001352506.2:c.394C>T	NP_001339435.1:p.His132Tyr
NR_148015.2:n.1367C>T
NR_148016.2:n.1323C>T
NM_001352504.2:c.973C>T	NP_001339433.1:p.His325Tyr