Canonical Allele Identifier: CA10317293
Community Standard Title: NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50462346G>A , CM000684.2:g.50462346G>A GRCh38
NC_000022.10:g.50900775G>A , CM000684.1:g.50900775G>A GRCh37
NC_000022.9:g.49247641G>A NCBI36
NG_041810.1:g.17726C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.2255C>T MANE Select NP_002963.2:p.Thr752Met
ENST00000380817.8:c.2255C>T MANE Select ENSP00000370196.2:p.Thr752Met
NM_001365819.1:c.2258C>T NP_001352748.1:p.Thr753Met
NM_002972.3:c.2255C>T NP_002963.2:p.Thr752Met
ENST00000348911.10:c.2258C>T ENSP00000252027.7:p.Thr753Met
ENST00000348911.11:c.2255C>T ENSP00000252027.8:p.Thr752Met
ENST00000380817.7:c.2255C>T ENSP00000370196.2:p.Thr752Met
ENST00000684986.1:c.2258C>T ENSP00000509117.1:p.Thr753Met
ENST00000685180.1:n.1995C>T
ENST00000685386.1:c.125C>T ENSP00000510338.1:p.Thr42Met
ENST00000685390.1:n.498C>T
ENST00000685809.1:c.2246C>T ENSP00000508863.1:p.Thr749Met
ENST00000686222.1:c.*1677C>T ENSP00000508737.1:n.*1677C>T
ENST00000686427.1:c.2255C>T ENSP00000510379.1:p.Thr752Met
ENST00000686801.1:c.2243C>T ENSP00000509915.1:p.Thr748Met
ENST00000687016.1:c.2246C>T ENSP00000509074.1:p.Thr749Met
ENST00000687704.1:c.*69C>T ENSP00000510454.1:n.*69C>T
ENST00000688030.1:c.125C>T ENSP00000508668.1:p.Thr42Met
ENST00000688066.1:c.2255C>T ENSP00000510782.1:p.Thr752Met
ENST00000688124.1:c.*1249C>T ENSP00000510645.1:n.*1249C>T
ENST00000688848.1:c.*1677C>T ENSP00000509419.1:n.*1677C>T
ENST00000689129.1:c.2258C>T ENSP00000510414.1:p.Thr753Met
ENST00000689177.1:n.29C>T
ENST00000689981.1:c.2255C>T ENSP00000509035.1:p.Thr752Met
ENST00000690369.1:n.2273C>T
ENST00000690990.1:c.2249C>T ENSP00000510461.1:p.Thr750Met
ENST00000691233.1:c.2252C>T ENSP00000509215.1:p.Thr751Met
ENST00000691345.1:n.756C>T
ENST00000691792.1:c.2255C>T ENSP00000509911.1:p.Thr752Met
ENST00000691959.1:n.2134C>T
ENST00000693052.1:c.2255C>T ENSP00000509558.1:p.Thr752Met
ENST00000693440.1:c.2252C>T ENSP00000509462.1:p.Thr751Met
ENST00000693499.1:n.1900C>T
XM_005261931.1:c.2258C>T XP_005261988.1:p.Thr753Met
XM_005261935.1:c.2255C>T XP_005261992.1:p.Thr752Met
XM_005261935.2:c.2255C>T XP_005261992.1:p.Thr752Met
XM_011530707.1:c.2357C>T XP_011529009.1:p.Thr786Met
XM_011530708.1:c.2309C>T XP_011529010.1:p.Thr770Met
XM_011530709.1:c.2285C>T XP_011529011.1:p.Thr762Met
XM_011530709.2:c.2285C>T XP_011529011.1:p.Thr762Met
XM_011530710.1:c.2282C>T XP_011529012.1:p.Thr761Met
XM_011530710.2:c.2282C>T XP_011529012.1:p.Thr761Met
XM_011530711.1:c.2360C>T XP_011529013.1:p.Thr787Met
XM_017028905.2:c.2285C>T XP_016884394.1:p.Thr762Met
XR_938344.1:n.2375C>T