Canonical Allele Identifier: CA515383899

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50462312G>A , CM000684.2:g.50462312G>A	GRCh38
NC_000022.10:g.50900741G>A , CM000684.1:g.50900741G>A	GRCh37
NC_000022.9:g.49247607G>A	NCBI36
NG_041810.1:g.17760C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.2289C>T MANE Select	NP_002963.2:p.Arg763=
ENST00000380817.8:c.2289C>T MANE Select	ENSP00000370196.2:p.Arg763=
NM_001365819.1:c.2292C>T	NP_001352748.1:p.Arg764=
NM_002972.3:c.2289C>T	NP_002963.2:p.Arg763=
ENST00000348911.10:c.2292C>T	ENSP00000252027.7:p.Arg764=
ENST00000348911.11:c.2289C>T	ENSP00000252027.8:p.Arg763=
ENST00000380817.7:c.2289C>T	ENSP00000370196.2:p.Arg763=
ENST00000684986.1:c.2292C>T	ENSP00000509117.1:p.Arg764=
ENST00000685180.1:n.2029C>T
ENST00000685386.1:c.159C>T	ENSP00000510338.1:p.Arg53=
ENST00000685390.1:n.532C>T
ENST00000685809.1:c.2280C>T	ENSP00000508863.1:p.Arg760=
ENST00000686222.1:c.*1711C>T	ENSP00000508737.1:n.*1711C>T
ENST00000686427.1:c.2289C>T	ENSP00000510379.1:p.Arg763=
ENST00000686801.1:c.2277C>T	ENSP00000509915.1:p.Arg759=
ENST00000687016.1:c.2280C>T	ENSP00000509074.1:p.Arg760=
ENST00000687704.1:c.*103C>T	ENSP00000510454.1:n.*103C>T
ENST00000688030.1:c.159C>T	ENSP00000508668.1:p.Arg53=
ENST00000688066.1:c.2289C>T	ENSP00000510782.1:p.Arg763=
ENST00000688124.1:c.*1283C>T	ENSP00000510645.1:n.*1283C>T
ENST00000688848.1:c.*1711C>T	ENSP00000509419.1:n.*1711C>T
ENST00000689129.1:c.2292C>T	ENSP00000510414.1:p.Arg764=
ENST00000689177.1:n.63C>T
ENST00000689981.1:c.2289C>T	ENSP00000509035.1:p.Arg763=
ENST00000690369.1:n.2307C>T
ENST00000690990.1:c.2283C>T	ENSP00000510461.1:p.Arg761=
ENST00000691233.1:c.2286C>T	ENSP00000509215.1:p.Arg762=
ENST00000691345.1:n.790C>T
ENST00000691792.1:c.2289C>T	ENSP00000509911.1:p.Arg763=
ENST00000691959.1:n.2168C>T
ENST00000693052.1:c.2289C>T	ENSP00000509558.1:p.Arg763=
ENST00000693440.1:c.2286C>T	ENSP00000509462.1:p.Arg762=
ENST00000693499.1:n.1934C>T
XM_005261931.1:c.2292C>T	XP_005261988.1:p.Arg764=
XM_005261935.1:c.2289C>T	XP_005261992.1:p.Arg763=
XM_005261935.2:c.2289C>T	XP_005261992.1:p.Arg763=
XM_011530707.1:c.2391C>T	XP_011529009.1:p.Arg797=
XM_011530708.1:c.2343C>T	XP_011529010.1:p.Arg781=
XM_011530709.1:c.2319C>T	XP_011529011.1:p.Arg773=
XM_011530709.2:c.2319C>T	XP_011529011.1:p.Arg773=
XM_011530710.1:c.2316C>T	XP_011529012.1:p.Arg772=
XM_011530710.2:c.2316C>T	XP_011529012.1:p.Arg772=
XM_011530711.1:c.2394C>T	XP_011529013.1:p.Arg798=
XM_017028905.2:c.2319C>T	XP_016884394.1:p.Arg773=
XR_938344.1:n.2409C>T