Canonical Allele Identifier: CA10316552

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50459263C>T , CM000684.2:g.50459263C>T	GRCh38
NC_000022.10:g.50897692C>T , CM000684.1:g.50897692C>T	GRCh37
NC_000022.9:g.49244558C>T	NCBI36
NG_041810.1:g.20809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.3818G>A	ENSP00000252027.8:p.Gly1273Asp
ENST00000470434.2:n.218G>A
ENST00000684986.1:c.3821G>A	ENSP00000509117.1:p.Gly1274Asp
ENST00000685180.1:n.2488+1271G>A
ENST00000685390.1:n.1864G>A
ENST00000685592.1:c.130G>A
ENST00000685809.1:c.3809G>A	ENSP00000508863.1:p.Gly1270Asp
ENST00000686191.1:n.515G>A
ENST00000686222.1:c.*3240G>A	ENSP00000508737.1:n.*3240G>A
ENST00000686427.1:c.*831G>A	ENSP00000510379.1:n.*831G>A
ENST00000686801.1:c.3806G>A	ENSP00000509915.1:p.Gly1269Asp
ENST00000687016.1:c.3797G>A	ENSP00000509074.1:p.Gly1266Asp
ENST00000687704.1:c.*1621G>A	ENSP00000510454.1:n.*1621G>A
ENST00000687861.1:n.376G>A
ENST00000688066.1:c.3818G>A	ENSP00000510782.1:p.Gly1273Asp
ENST00000688124.1:c.*2812G>A	ENSP00000510645.1:n.*2812G>A
ENST00000688848.1:c.*3240G>A	ENSP00000509419.1:n.*3240G>A
ENST00000688985.1:c.824G>A	ENSP00000510477.1:p.Gly275Asp
ENST00000689129.1:c.3821G>A	ENSP00000510414.1:p.Gly1274Asp
ENST00000689177.1:n.1954G>A
ENST00000689981.1:c.3818G>A	ENSP00000509035.1:p.Gly1273Asp
ENST00000690369.1:n.3836G>A
ENST00000690590.1:n.865G>A
ENST00000690990.1:c.3812G>A	ENSP00000510461.1:p.Gly1271Asp
ENST00000691233.1:c.3815G>A	ENSP00000509215.1:p.Gly1272Asp
ENST00000691345.1:n.1932G>A
ENST00000691792.1:c.3818G>A	ENSP00000509911.1:p.Gly1273Asp
ENST00000691959.1:n.3982G>A
ENST00000692844.1:n.980G>A
ENST00000693052.1:c.3836G>A	ENSP00000509558.1:p.Gly1279Asp
ENST00000693289.1:n.617G>A
ENST00000693440.1:c.3815G>A	ENSP00000509462.1:p.Gly1272Asp
ENST00000693499.1:n.4383G>A
ENST00000380817.8:c.3818G>A MANE Select	ENSP00000370196.2:p.Gly1273Asp
ENST00000348911.10:c.3821G>A	ENSP00000252027.7:p.Gly1274Asp
ENST00000380817.7:c.3818G>A	ENSP00000370196.2:p.Gly1273Asp
NM_002972.3:c.3818G>A	NP_002963.2:p.Gly1273Asp
XM_005261931.1:c.3821G>A	XP_005261988.1:p.Gly1274Asp
XM_005261935.1:c.3818G>A	XP_005261992.1:p.Gly1273Asp
XM_011530707.1:c.3920G>A	XP_011529009.1:p.Gly1307Asp
XM_011530708.1:c.3872G>A	XP_011529010.1:p.Gly1291Asp
XM_011530709.1:c.3848G>A	XP_011529011.1:p.Gly1283Asp
XM_011530710.1:c.3845G>A	XP_011529012.1:p.Gly1282Asp
XM_011530711.1:c.3923G>A	XP_011529013.1:p.Gly1308Asp
XR_938344.1:n.3938G>A
NM_001365819.1:c.3821G>A	NP_001352748.1:p.Gly1274Asp
XM_005261935.2:c.3818G>A	XP_005261992.1:p.Gly1273Asp
XM_011530709.2:c.3848G>A	XP_011529011.1:p.Gly1283Asp
XM_011530710.2:c.3845G>A	XP_011529012.1:p.Gly1282Asp
XM_017028905.2:c.3848G>A	XP_016884394.1:p.Gly1283Asp
NM_002972.4:c.3818G>A MANE Select	NP_002963.2:p.Gly1273Asp