Canonical Allele Identifier: CA325524768
Community Standard Title: NM_002972.4(SBF1):c.5176T>G (p.Ser1726Ala)
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50448420A>C , CM000684.2:g.50448420A>C GRCh38
NC_000022.10:g.50886849A>C , CM000684.1:g.50886849A>C GRCh37
NC_000022.9:g.49233715A>C NCBI36
NG_041810.1:g.31652T>G

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.5176T>G MANE Select NP_002963.2:p.Ser1726Ala
ENST00000380817.8:c.5176T>G MANE Select ENSP00000370196.2:p.Ser1726Ala
NM_001365819.1:c.5101T>G NP_001352748.1:p.Ser1701Ala
NM_002972.3:c.5176T>G NP_002963.2:p.Ser1726Ala
ENST00000348911.10:c.5101T>G ENSP00000252027.7:p.Ser1701Ala
ENST00000348911.11:c.5098T>G ENSP00000252027.8:p.Ser1700Ala
ENST00000380817.7:c.5176T>G ENSP00000370196.2:p.Ser1726Ala
ENST00000418590.3:c.740T>G
ENST00000418590.4:c.772T>G ENSP00000401538.2:p.Ser258Ala
ENST00000470434.1:n.1317T>G
ENST00000470434.2:n.1579T>G
ENST00000473724.2:n.315T>G
ENST00000684986.1:c.5179T>G ENSP00000509117.1:p.Ser1727Ala
ENST00000685180.1:n.2719T>G
ENST00000685390.1:n.3127T>G
ENST00000685411.1:n.926T>G
ENST00000685459.1:c.328T>G ENSP00000509511.1:p.Ser110Ala
ENST00000685592.1:c.1426T>G
ENST00000685809.1:c.5089T>G ENSP00000508863.1:p.Ser1697Ala
ENST00000686191.1:n.4376T>G
ENST00000686222.1:c.*4598T>G ENSP00000508737.1:n.*4598T>G
ENST00000686321.1:c.1272T>G
ENST00000686427.1:c.*2108T>G ENSP00000510379.1:n.*2108T>G
ENST00000686758.1:n.2990T>G
ENST00000686801.1:c.*14T>G ENSP00000509915.1:n.*14T>G
ENST00000686826.1:n.1495T>G
ENST00000687016.1:c.5074T>G ENSP00000509074.1:p.Ser1692Ala
ENST00000687704.1:c.*2972T>G ENSP00000510454.1:n.*2972T>G
ENST00000688066.1:c.5176T>G ENSP00000510782.1:p.Ser1726Ala
ENST00000688124.1:c.*4077T>G ENSP00000510645.1:n.*4077T>G
ENST00000688381.1:c.328T>G ENSP00000508847.1:p.Ser110Ala
ENST00000688848.1:c.*4520T>G ENSP00000509419.1:n.*4520T>G
ENST00000688985.1:c.2177T>G ENSP00000510477.1:n.2177T>G
ENST00000689129.1:c.5101T>G ENSP00000510414.1:p.Ser1701Ala
ENST00000689177.1:n.6445T>G
ENST00000689849.1:c.1261T>G
ENST00000689981.1:c.5176T>G ENSP00000509035.1:p.Ser1726Ala
ENST00000690369.1:n.5194T>G
ENST00000690590.1:n.2223T>G
ENST00000690990.1:c.5170T>G ENSP00000510461.1:p.Ser1724Ala
ENST00000691233.1:c.5095T>G ENSP00000509215.1:p.Ser1699Ala
ENST00000691345.1:n.2435T>G
ENST00000691792.1:c.5161T>G ENSP00000509911.1:p.Ser1721Ala
ENST00000691959.1:n.5895T>G
ENST00000692844.1:n.2260T>G
ENST00000692946.1:c.1272T>G
ENST00000693052.1:c.5194T>G ENSP00000509558.1:p.Ser1732Ala
ENST00000693068.1:c.304-45T>G ENSP00000509997.1:n.304-45T>G
ENST00000693440.1:c.5173T>G ENSP00000509462.1:p.Ser1725Ala
ENST00000693591.1:n.3984T>G
XM_005261931.1:c.5179T>G XP_005261988.1:p.Ser1727Ala
XM_005261935.1:c.5098T>G XP_005261992.1:p.Ser1700Ala
XM_005261935.2:c.5098T>G XP_005261992.1:p.Ser1700Ala
XM_011530707.1:c.5278T>G XP_011529009.1:p.Ser1760Ala
XM_011530708.1:c.5230T>G XP_011529010.1:p.Ser1744Ala
XM_011530709.1:c.5206T>G XP_011529011.1:p.Ser1736Ala
XM_011530709.2:c.5206T>G XP_011529011.1:p.Ser1736Ala
XM_011530710.1:c.5203T>G XP_011529012.1:p.Ser1735Ala
XM_011530710.2:c.5203T>G XP_011529012.1:p.Ser1735Ala
XM_011530711.1:c.5203T>G XP_011529013.1:p.Ser1735Ala
XM_017028905.2:c.5128T>G XP_016884394.1:p.Ser1710Ala
XR_938344.1:n.5296T>G