Canonical Allele Identifier: CA16602509

Gene: SF3B1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_012433.4:c.2099A>T MANE Select	NP_036565.2:p.Lys700Ile
ENST00000335508.11:c.2099A>T MANE Select	ENSP00000335321.6:p.Lys700Ile
NM_012433.2:c.2099A>T	NP_036565.2:p.Lys700Ile
NM_012433.3:c.2099A>T , LRG_624t2:c.2099A>T	NP_036565.2:p.Lys700Ile
ENST00000335508.10:c.2099A>T	ENSP00000335321.5:p.Lys700Ile
ENST00000462613.1:n.54A>T
ENST00000470268.2:n.3983A>T
ENST00000652026.1:c.*3166A>T	ENSP00000498652.1:n.*3166A>T
ENST00000652738.1:c.*2358A>T	ENSP00000499119.1:n.*2358A>T
XM_011510867.1:c.1661A>T	XP_011509169.1:p.Lys554Ile
XM_011510868.1:c.1661A>T	XP_011509170.1:p.Lys554Ile
XR_001738680.2:n.2144A>T
XR_241300.2:n.2191A>T