Canonical Allele Identifier: CA10317286

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50462313C>T , CM000684.2:g.50462313C>T	GRCh38
NC_000022.10:g.50900742C>T , CM000684.1:g.50900742C>T	GRCh37
NC_000022.9:g.49247608C>T	NCBI36
NG_041810.1:g.17759G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.2288G>A MANE Select	NP_002963.2:p.Arg763His
ENST00000380817.8:c.2288G>A MANE Select	ENSP00000370196.2:p.Arg763His
NM_001365819.1:c.2291G>A	NP_001352748.1:p.Arg764His
NM_002972.3:c.2288G>A	NP_002963.2:p.Arg763His
ENST00000348911.10:c.2291G>A	ENSP00000252027.7:p.Arg764His
ENST00000348911.11:c.2288G>A	ENSP00000252027.8:p.Arg763His
ENST00000380817.7:c.2288G>A	ENSP00000370196.2:p.Arg763His
ENST00000684986.1:c.2291G>A	ENSP00000509117.1:p.Arg764His
ENST00000685180.1:n.2028G>A
ENST00000685386.1:c.158G>A	ENSP00000510338.1:p.Arg53His
ENST00000685390.1:n.531G>A
ENST00000685809.1:c.2279G>A	ENSP00000508863.1:p.Arg760His
ENST00000686222.1:c.*1710G>A	ENSP00000508737.1:n.*1710G>A
ENST00000686427.1:c.2288G>A	ENSP00000510379.1:p.Arg763His
ENST00000686801.1:c.2276G>A	ENSP00000509915.1:p.Arg759His
ENST00000687016.1:c.2279G>A	ENSP00000509074.1:p.Arg760His
ENST00000687704.1:c.*102G>A	ENSP00000510454.1:n.*102G>A
ENST00000688030.1:c.158G>A	ENSP00000508668.1:p.Arg53His
ENST00000688066.1:c.2288G>A	ENSP00000510782.1:p.Arg763His
ENST00000688124.1:c.*1282G>A	ENSP00000510645.1:n.*1282G>A
ENST00000688848.1:c.*1710G>A	ENSP00000509419.1:n.*1710G>A
ENST00000689129.1:c.2291G>A	ENSP00000510414.1:p.Arg764His
ENST00000689177.1:n.62G>A
ENST00000689981.1:c.2288G>A	ENSP00000509035.1:p.Arg763His
ENST00000690369.1:n.2306G>A
ENST00000690990.1:c.2282G>A	ENSP00000510461.1:p.Arg761His
ENST00000691233.1:c.2285G>A	ENSP00000509215.1:p.Arg762His
ENST00000691345.1:n.789G>A
ENST00000691792.1:c.2288G>A	ENSP00000509911.1:p.Arg763His
ENST00000691959.1:n.2167G>A
ENST00000693052.1:c.2288G>A	ENSP00000509558.1:p.Arg763His
ENST00000693440.1:c.2285G>A	ENSP00000509462.1:p.Arg762His
ENST00000693499.1:n.1933G>A
XM_005261931.1:c.2291G>A	XP_005261988.1:p.Arg764His
XM_005261935.1:c.2288G>A	XP_005261992.1:p.Arg763His
XM_005261935.2:c.2288G>A	XP_005261992.1:p.Arg763His
XM_011530707.1:c.2390G>A	XP_011529009.1:p.Arg797His
XM_011530708.1:c.2342G>A	XP_011529010.1:p.Arg781His
XM_011530709.1:c.2318G>A	XP_011529011.1:p.Arg773His
XM_011530709.2:c.2318G>A	XP_011529011.1:p.Arg773His
XM_011530710.1:c.2315G>A	XP_011529012.1:p.Arg772His
XM_011530710.2:c.2315G>A	XP_011529012.1:p.Arg772His
XM_011530711.1:c.2393G>A	XP_011529013.1:p.Arg798His
XM_017028905.2:c.2318G>A	XP_016884394.1:p.Arg773His
XR_938344.1:n.2408G>A