Canonical Allele Identifier: CA412184537
Community Standard Title: NM_002972.4(SBF1):c.5463C>G (p.Tyr1821Ter)
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50447442G>C , CM000684.2:g.50447442G>C GRCh38
NC_000022.10:g.50885871G>C , CM000684.1:g.50885871G>C GRCh37
NC_000022.9:g.49232737G>C NCBI36
NG_041810.1:g.32630C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.5463C>G MANE Select NP_002963.2:p.Tyr1821Ter
ENST00000380817.8:c.5463C>G MANE Select ENSP00000370196.2:p.Tyr1821Ter
NM_001365819.1:c.5388C>G NP_001352748.1:p.Tyr1796Ter
NM_002972.3:c.5463C>G NP_002963.2:p.Tyr1821Ter
ENST00000348911.10:c.5388C>G ENSP00000252027.7:p.Tyr1796Ter
ENST00000348911.11:c.5385C>G ENSP00000252027.8:p.Tyr1795Ter
ENST00000380817.7:c.5463C>G ENSP00000370196.2:p.Tyr1821Ter
ENST00000418590.3:c.1027C>G
ENST00000418590.4:c.1059C>G ENSP00000401538.2:p.Tyr353Ter
ENST00000470434.1:n.1604C>G
ENST00000470434.2:n.1866C>G
ENST00000473724.1:n.168C>G
ENST00000473724.2:n.602C>G
ENST00000684986.1:c.5466C>G ENSP00000509117.1:p.Tyr1822Ter
ENST00000685180.1:n.3074C>G
ENST00000685390.1:n.3414C>G
ENST00000685411.1:n.1836C>G
ENST00000685459.1:c.615C>G ENSP00000509511.1:p.Tyr205Ter
ENST00000685592.1:c.1713C>G
ENST00000685809.1:c.5376C>G ENSP00000508863.1:p.Tyr1792Ter
ENST00000686191.1:n.4663C>G
ENST00000686222.1:c.*4885C>G ENSP00000508737.1:n.*4885C>G
ENST00000686321.1:c.1776C>G
ENST00000686427.1:c.*2395C>G ENSP00000510379.1:n.*2395C>G
ENST00000686758.1:n.3277C>G
ENST00000686801.1:c.*301C>G ENSP00000509915.1:n.*301C>G
ENST00000686826.1:n.1782C>G
ENST00000687016.1:c.5361C>G ENSP00000509074.1:p.Tyr1787Ter
ENST00000687704.1:c.*3259C>G ENSP00000510454.1:n.*3259C>G
ENST00000688066.1:c.5463C>G ENSP00000510782.1:p.Tyr1821Ter
ENST00000688124.1:c.*4364C>G ENSP00000510645.1:n.*4364C>G
ENST00000688381.1:c.604-20C>G ENSP00000508847.1:n.604-20C>G
ENST00000688848.1:c.*4807C>G ENSP00000509419.1:n.*4807C>G
ENST00000688985.1:c.2464C>G ENSP00000510477.1:n.2464C>G
ENST00000689129.1:c.5388C>G ENSP00000510414.1:p.Tyr1796Ter
ENST00000689177.1:n.6800C>G
ENST00000689849.1:c.1548C>G
ENST00000689981.1:c.5463C>G ENSP00000509035.1:p.Tyr1821Ter
ENST00000690369.1:n.5481C>G
ENST00000690590.1:n.2510C>G
ENST00000690990.1:c.5457C>G ENSP00000510461.1:p.Tyr1819Ter
ENST00000691233.1:c.5382C>G ENSP00000509215.1:p.Tyr1794Ter
ENST00000691345.1:n.2790C>G
ENST00000691792.1:c.5448C>G ENSP00000509911.1:p.Tyr1816Ter
ENST00000691959.1:n.6805C>G
ENST00000692844.1:n.2547C>G
ENST00000692946.1:c.1559C>G
ENST00000693052.1:c.5481C>G ENSP00000509558.1:p.Tyr1827Ter
ENST00000693068.1:c.546C>G ENSP00000509997.1:p.Tyr182Ter
ENST00000693440.1:c.5460C>G ENSP00000509462.1:p.Tyr1820Ter
ENST00000693591.1:n.4271C>G
XM_005261931.1:c.5466C>G XP_005261988.1:p.Tyr1822Ter
XM_005261935.1:c.5385C>G XP_005261992.1:p.Tyr1795Ter
XM_005261935.2:c.5385C>G XP_005261992.1:p.Tyr1795Ter
XM_011530707.1:c.5565C>G XP_011529009.1:p.Tyr1855Ter
XM_011530708.1:c.5517C>G XP_011529010.1:p.Tyr1839Ter
XM_011530709.1:c.5493C>G XP_011529011.1:p.Tyr1831Ter
XM_011530709.2:c.5493C>G XP_011529011.1:p.Tyr1831Ter
XM_011530710.1:c.5490C>G XP_011529012.1:p.Tyr1830Ter
XM_011530710.2:c.5490C>G XP_011529012.1:p.Tyr1830Ter
XM_011530711.1:c.5490C>G XP_011529013.1:p.Tyr1830Ter
XM_017028905.2:c.5415C>G XP_016884394.1:p.Tyr1805Ter
XR_938344.1:n.5583C>G