Canonical Allele Identifier: CA10316467
Community Standard Title: NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly)
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50456638T>C , CM000684.2:g.50456638T>C GRCh38
NC_000022.10:g.50895067T>C , CM000684.1:g.50895067T>C GRCh37
NC_000022.9:g.49241933T>C NCBI36
NG_041810.1:g.23434A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.3940A>G MANE Select NP_002963.2:p.Ser1314Gly
ENST00000380817.8:c.3940A>G MANE Select ENSP00000370196.2:p.Ser1314Gly
NM_001365819.1:c.3865A>G NP_001352748.1:p.Ser1289Gly
NM_002972.3:c.3940A>G NP_002963.2:p.Ser1314Gly
ENST00000348911.10:c.3865A>G ENSP00000252027.7:p.Ser1289Gly
ENST00000348911.11:c.3862A>G ENSP00000252027.8:p.Ser1288Gly
ENST00000380817.7:c.3940A>G ENSP00000370196.2:p.Ser1314Gly
ENST00000470434.2:n.262A>G
ENST00000476293.1:n.350A>G
ENST00000684986.1:c.3943A>G ENSP00000509117.1:p.Ser1315Gly
ENST00000685180.1:n.2488+3896A>G
ENST00000685390.1:n.1908A>G
ENST00000685592.1:c.174A>G
ENST00000685809.1:c.3853A>G ENSP00000508863.1:p.Ser1285Gly
ENST00000686029.1:c.36A>G
ENST00000686191.1:n.3140A>G
ENST00000686222.1:c.*3362A>G ENSP00000508737.1:n.*3362A>G
ENST00000686321.1:c.36A>G
ENST00000686427.1:c.*875A>G ENSP00000510379.1:n.*875A>G
ENST00000686758.1:n.1602A>G
ENST00000686801.1:c.3928A>G ENSP00000509915.1:p.Ser1310Gly
ENST00000686826.1:n.257A>G
ENST00000687016.1:c.3841A>G ENSP00000509074.1:p.Ser1281Gly
ENST00000687704.1:c.*1665A>G ENSP00000510454.1:n.*1665A>G
ENST00000688066.1:c.3940A>G ENSP00000510782.1:p.Ser1314Gly
ENST00000688124.1:c.*2856A>G ENSP00000510645.1:n.*2856A>G
ENST00000688848.1:c.*3284A>G ENSP00000509419.1:n.*3284A>G
ENST00000688985.1:c.941A>G ENSP00000510477.1:p.Gln314Arg
ENST00000689129.1:c.3865A>G ENSP00000510414.1:p.Ser1289Gly
ENST00000689177.1:n.4579A>G
ENST00000689849.1:c.36A>G
ENST00000689981.1:c.3940A>G ENSP00000509035.1:p.Ser1314Gly
ENST00000690369.1:n.3958A>G
ENST00000690590.1:n.987A>G
ENST00000690990.1:c.3934A>G ENSP00000510461.1:p.Ser1312Gly
ENST00000691233.1:c.3859A>G ENSP00000509215.1:p.Ser1287Gly
ENST00000691306.1:c.36A>G
ENST00000691345.1:n.1976A>G
ENST00000691792.1:c.3940A>G ENSP00000509911.1:p.Ser1314Gly
ENST00000691959.1:n.4026A>G
ENST00000692844.1:n.1024A>G
ENST00000692946.1:c.36A>G
ENST00000693052.1:c.3958A>G ENSP00000509558.1:p.Ser1320Gly
ENST00000693289.1:n.1099A>G
ENST00000693440.1:c.3937A>G ENSP00000509462.1:p.Ser1313Gly
ENST00000693499.1:n.4865A>G
ENST00000693591.1:n.2044A>G
XM_005261931.1:c.3943A>G XP_005261988.1:p.Ser1315Gly
XM_005261935.1:c.3862A>G XP_005261992.1:p.Ser1288Gly
XM_005261935.2:c.3862A>G XP_005261992.1:p.Ser1288Gly
XM_011530707.1:c.4042A>G XP_011529009.1:p.Ser1348Gly
XM_011530708.1:c.3994A>G XP_011529010.1:p.Ser1332Gly
XM_011530709.1:c.3970A>G XP_011529011.1:p.Ser1324Gly
XM_011530709.2:c.3970A>G XP_011529011.1:p.Ser1324Gly
XM_011530710.1:c.3967A>G XP_011529012.1:p.Ser1323Gly
XM_011530710.2:c.3967A>G XP_011529012.1:p.Ser1323Gly
XM_011530711.1:c.3967A>G XP_011529013.1:p.Ser1323Gly
XM_017028905.2:c.3892A>G XP_016884394.1:p.Ser1298Gly
XR_938344.1:n.4060A>G