Canonical Allele Identifier: CA350194012

Gene: SF3B1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_012433.4:c.2225G>C MANE Select	NP_036565.2:p.Gly742Ala
ENST00000335508.11:c.2225G>C MANE Select	ENSP00000335321.6:p.Gly742Ala
NM_012433.2:c.2225G>C	NP_036565.2:p.Gly742Ala
NM_012433.3:c.2225G>C , LRG_624t2:c.2225G>C	NP_036565.2:p.Gly742Ala
ENST00000335508.10:c.2225G>C	ENSP00000335321.5:p.Gly742Ala
ENST00000470268.2:n.4109G>C
ENST00000652026.1:c.*3292G>C	ENSP00000498652.1:n.*3292G>C
ENST00000652738.1:c.*2484G>C	ENSP00000499119.1:n.*2484G>C
XM_011510867.1:c.1787G>C	XP_011509169.1:p.Gly596Ala
XM_011510868.1:c.1787G>C	XP_011509170.1:p.Gly596Ala
XR_001738680.2:n.2270G>C
XR_241300.2:n.2317G>C