Canonical Allele Identifier: CA1319252353

Gene: SF3B1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_012433.4:c.1997A= MANE Select	NP_036565.2:p.Lys666=
ENST00000335508.11:c.1997A= MANE Select	ENSP00000335321.6:p.Lys666=
NM_012433.2:c.1997A=	NP_036565.2:p.Lys666=
NM_012433.3:c.1997A= , LRG_624t2:c.1997A=	NP_036565.2:p.Lys666=
ENST00000335508.10:c.1997A=	ENSP00000335321.5:p.Lys666=
ENST00000470268.2:n.3881A=
ENST00000652026.1:c.*3064A=	ENSP00000498652.1:n.*3064A=
ENST00000652738.1:c.*2256A=	ENSP00000499119.1:n.*2256A=
XM_011510867.1:c.1559A=	XP_011509169.1:p.Lys520=
XM_011510868.1:c.1559A=	XP_011509170.1:p.Lys520=
XR_001738680.2:n.2042A=
XR_241300.2:n.2089A=