Canonical Allele Identifier: CA280929
Gene: SF3B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219098
dbSNP Id: rs377023736
COSMIC: COSM131557
CIViC: CA280929

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197402635C>A , CM000664.2:g.197402635C>A GRCh38
NC_000002.11:g.198267359C>A , CM000664.1:g.198267359C>A GRCh37
NC_000002.10:g.197975604C>A NCBI36
NG_032903.2:g.37413G>T , LRG_624:g.37413G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335508.11:c.1998G>T MANE Select ENSP00000335321.6:p.Lys666Asn
ENST00000470268.2:n.3882G>T
ENST00000652026.1:c.*3065G>T ENSP00000498652.1:n.*3065G>T
ENST00000652738.1:c.*2257G>T ENSP00000499119.1:n.*2257G>T
ENST00000335508.10:c.1998G>T ENSP00000335321.5:p.Lys666Asn
NM_012433.2:c.1998G>T NP_036565.2:p.Lys666Asn
NM_012433.3:c.1998G>T , LRG_624t2:c.1998G>T NP_036565.2:p.Lys666Asn
XM_011510867.1:c.1560G>T XP_011509169.1:p.Lys520Asn
XM_011510868.1:c.1560G>T XP_011509170.1:p.Lys520Asn
XR_241300.2:n.2090G>T
XR_001738680.2:n.2043G>T
NM_012433.4:c.1998G>T MANE Select NP_036565.2:p.Lys666Asn