Canonical Allele Identifier: CA350196052

Gene: SF3B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197402759C>G , CM000664.2:g.197402759C>G	GRCh38
NC_000002.11:g.198267483C>G , CM000664.1:g.198267483C>G	GRCh37
NC_000002.10:g.197975728C>G	NCBI36
NG_032903.2:g.37289G>C , LRG_624:g.37289G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012433.4:c.1874G>C MANE Select	NP_036565.2:p.Arg625Pro
ENST00000335508.11:c.1874G>C MANE Select	ENSP00000335321.6:p.Arg625Pro
NM_012433.2:c.1874G>C	NP_036565.2:p.Arg625Pro
NM_012433.3:c.1874G>C , LRG_624t2:c.1874G>C	NP_036565.2:p.Arg625Pro
ENST00000335508.10:c.1874G>C	ENSP00000335321.5:p.Arg625Pro
ENST00000470268.2:n.3758G>C
ENST00000652026.1:c.*2941G>C	ENSP00000498652.1:n.*2941G>C
ENST00000652738.1:c.*2133G>C	ENSP00000499119.1:n.*2133G>C
XM_011510867.1:c.1436G>C	XP_011509169.1:p.Arg479Pro
XM_011510868.1:c.1436G>C	XP_011509170.1:p.Arg479Pro
XR_001738680.2:n.1919G>C
XR_241300.2:n.1966G>C