Canonical Allele Identifier: CA1319251834

Gene: SF3B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197402109T= , CM000664.2:g.197402109T=	GRCh38
NC_000002.11:g.198266833T= , CM000664.1:g.198266833T=	GRCh37
NC_000002.10:g.197975078T=	NCBI36
NG_032903.2:g.37939A= , LRG_624:g.37939A=

Transcript Alleles

HGVS	Amino-acid Change
NM_012433.4:c.2099A= MANE Select	NP_036565.2:p.Lys700=
ENST00000335508.11:c.2099A= MANE Select	ENSP00000335321.6:p.Lys700=
NM_012433.2:c.2099A=	NP_036565.2:p.Lys700=
NM_012433.3:c.2099A= , LRG_624t2:c.2099A=	NP_036565.2:p.Lys700=
ENST00000335508.10:c.2099A=	ENSP00000335321.5:p.Lys700=
ENST00000462613.1:n.54A=
ENST00000470268.2:n.3983A=
ENST00000652026.1:c.*3166A=	ENSP00000498652.1:n.*3166A=
ENST00000652738.1:c.*2358A=	ENSP00000499119.1:n.*2358A=
XM_011510867.1:c.1661A=	XP_011509169.1:p.Lys554=
XM_011510868.1:c.1661A=	XP_011509170.1:p.Lys554=
XR_001738680.2:n.2144A=
XR_241300.2:n.2191A=