Canonical Allele Identifier: CA2042577

Gene: SF3B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197401887C>T , CM000664.2:g.197401887C>T	GRCh38
NC_000002.11:g.198266611C>T , CM000664.1:g.198266611C>T	GRCh37
NC_000002.10:g.197974856C>T	NCBI36
NG_032903.2:g.38161G>A , LRG_624:g.38161G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012433.4:c.2225G>A MANE Select	NP_036565.2:p.Gly742Asp
ENST00000335508.11:c.2225G>A MANE Select	ENSP00000335321.6:p.Gly742Asp
NM_012433.2:c.2225G>A	NP_036565.2:p.Gly742Asp
NM_012433.3:c.2225G>A , LRG_624t2:c.2225G>A	NP_036565.2:p.Gly742Asp
ENST00000335508.10:c.2225G>A	ENSP00000335321.5:p.Gly742Asp
ENST00000470268.2:n.4109G>A
ENST00000652026.1:c.*3292G>A	ENSP00000498652.1:n.*3292G>A
ENST00000652738.1:c.*2484G>A	ENSP00000499119.1:n.*2484G>A
XM_011510867.1:c.1787G>A	XP_011509169.1:p.Gly596Asp
XM_011510868.1:c.1787G>A	XP_011509170.1:p.Gly596Asp
XR_001738680.2:n.2270G>A
XR_241300.2:n.2317G>A