Canonical Allele Identifier: CA2042627

Gene: SF3B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197402636T>G , CM000664.2:g.197402636T>G	GRCh38
NC_000002.11:g.198267360T>G , CM000664.1:g.198267360T>G	GRCh37
NC_000002.10:g.197975605T>G	NCBI36
NG_032903.2:g.37412A>C , LRG_624:g.37412A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012433.4:c.1997A>C MANE Select	NP_036565.2:p.Lys666Thr
ENST00000335508.11:c.1997A>C MANE Select	ENSP00000335321.6:p.Lys666Thr
NM_012433.2:c.1997A>C	NP_036565.2:p.Lys666Thr
NM_012433.3:c.1997A>C , LRG_624t2:c.1997A>C	NP_036565.2:p.Lys666Thr
ENST00000335508.10:c.1997A>C	ENSP00000335321.5:p.Lys666Thr
ENST00000470268.2:n.3881A>C
ENST00000652026.1:c.*3064A>C	ENSP00000498652.1:n.*3064A>C
ENST00000652738.1:c.*2256A>C	ENSP00000499119.1:n.*2256A>C
XM_011510867.1:c.1559A>C	XP_011509169.1:p.Lys520Thr
XM_011510868.1:c.1559A>C	XP_011509170.1:p.Lys520Thr
XR_001738680.2:n.2042A>C
XR_241300.2:n.2089A>C