Canonical Allele Identifier: CA350193183
Gene: SF3B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197401440C>A , CM000664.2:g.197401440C>A GRCh38
NC_000002.11:g.198266164C>A , CM000664.1:g.198266164C>A GRCh37
NC_000002.10:g.197974409C>A NCBI36
NG_032903.2:g.38608G>T , LRG_624:g.38608G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335508.11:c.2456G>T MANE Select ENSP00000335321.6:p.Trp819Leu
ENST00000470268.2:n.4340G>T
ENST00000652026.1:c.*3523G>T ENSP00000498652.1:n.*3523G>T
ENST00000652738.1:c.*2715G>T ENSP00000499119.1:n.*2715G>T
ENST00000335508.10:c.2456G>T ENSP00000335321.5:p.Trp819Leu
NM_012433.2:c.2456G>T NP_036565.2:p.Trp819Leu
NM_012433.3:c.2456G>T , LRG_624t2:c.2456G>T NP_036565.2:p.Trp819Leu
XM_011510867.1:c.2018G>T XP_011509169.1:p.Trp673Leu
XM_011510868.1:c.2018G>T XP_011509170.1:p.Trp673Leu
XR_241300.2:n.2548G>T
XR_001738680.2:n.2501G>T
NM_012433.4:c.2456G>T MANE Select NP_036565.2:p.Trp819Leu