Canonical Allele Identifier: CA16602512

Gene: SF3B1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197402110T>A , CM000664.2:g.197402110T>A	GRCh38
NC_000002.11:g.198266834T>A , CM000664.1:g.198266834T>A	GRCh37
NC_000002.10:g.197975079T>A	NCBI36
NG_032903.2:g.37938A>T , LRG_624:g.37938A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335508.11:c.2098A>T MANE Select	ENSP00000335321.6:p.Lys700Ter
ENST00000470268.2:n.3982A>T
ENST00000652026.1:c.*3165A>T	ENSP00000498652.1:n.*3165A>T
ENST00000652738.1:c.*2357A>T	ENSP00000499119.1:n.*2357A>T
ENST00000335508.10:c.2098A>T	ENSP00000335321.5:p.Lys700Ter
ENST00000462613.1:n.53A>T
NM_012433.2:c.2098A>T	NP_036565.2:p.Lys700Ter
NM_012433.3:c.2098A>T , LRG_624t2:c.2098A>T	NP_036565.2:p.Lys700Ter
XM_011510867.1:c.1660A>T	XP_011509169.1:p.Lys554Ter
XM_011510868.1:c.1660A>T	XP_011509170.1:p.Lys554Ter
XR_241300.2:n.2190A>T
XR_001738680.2:n.2143A>T
NM_012433.4:c.2098A>T MANE Select	NP_036565.2:p.Lys700Ter