Canonical Allele Identifier: CA10317252
Community Standard Title: NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50462208T>C , CM000684.2:g.50462208T>C GRCh38
NC_000022.10:g.50900637T>C , CM000684.1:g.50900637T>C GRCh37
NC_000022.9:g.49247503T>C NCBI36
NG_041810.1:g.17864A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.2393A>G MANE Select NP_002963.2:p.Asn798Ser
ENST00000380817.8:c.2393A>G MANE Select ENSP00000370196.2:p.Asn798Ser
NM_001365819.1:c.2396A>G NP_001352748.1:p.Asn799Ser
NM_002972.3:c.2393A>G NP_002963.2:p.Asn798Ser
ENST00000348911.10:c.2396A>G ENSP00000252027.7:p.Asn799Ser
ENST00000348911.11:c.2393A>G ENSP00000252027.8:p.Asn798Ser
ENST00000380817.7:c.2393A>G ENSP00000370196.2:p.Asn798Ser
ENST00000684986.1:c.2396A>G ENSP00000509117.1:p.Asn799Ser
ENST00000685180.1:n.2133A>G
ENST00000685386.1:c.263A>G ENSP00000510338.1:p.Asn88Ser
ENST00000685390.1:n.636A>G
ENST00000685809.1:c.2384A>G ENSP00000508863.1:p.Asn795Ser
ENST00000686222.1:c.*1815A>G ENSP00000508737.1:n.*1815A>G
ENST00000686427.1:c.2393A>G ENSP00000510379.1:p.Asn798Ser
ENST00000686801.1:c.2381A>G ENSP00000509915.1:p.Asn794Ser
ENST00000687016.1:c.2384A>G ENSP00000509074.1:p.Asn795Ser
ENST00000687704.1:c.*207A>G ENSP00000510454.1:n.*207A>G
ENST00000688030.1:c.263A>G ENSP00000508668.1:p.Asn88Ser
ENST00000688066.1:c.2393A>G ENSP00000510782.1:p.Asn798Ser
ENST00000688124.1:c.*1387A>G ENSP00000510645.1:n.*1387A>G
ENST00000688848.1:c.*1815A>G ENSP00000509419.1:n.*1815A>G
ENST00000689129.1:c.2396A>G ENSP00000510414.1:p.Asn799Ser
ENST00000689177.1:n.167A>G
ENST00000689981.1:c.2393A>G ENSP00000509035.1:p.Asn798Ser
ENST00000690369.1:n.2411A>G
ENST00000690990.1:c.2387A>G ENSP00000510461.1:p.Asn796Ser
ENST00000691233.1:c.2390A>G ENSP00000509215.1:p.Asn797Ser
ENST00000691345.1:n.894A>G
ENST00000691792.1:c.2393A>G ENSP00000509911.1:p.Asn798Ser
ENST00000691959.1:n.2272A>G
ENST00000693052.1:c.2393A>G ENSP00000509558.1:p.Asn798Ser
ENST00000693440.1:c.2390A>G ENSP00000509462.1:p.Asn797Ser
ENST00000693499.1:n.2038A>G
XM_005261931.1:c.2396A>G XP_005261988.1:p.Asn799Ser
XM_005261935.1:c.2393A>G XP_005261992.1:p.Asn798Ser
XM_005261935.2:c.2393A>G XP_005261992.1:p.Asn798Ser
XM_011530707.1:c.2495A>G XP_011529009.1:p.Asn832Ser
XM_011530708.1:c.2447A>G XP_011529010.1:p.Asn816Ser
XM_011530709.1:c.2423A>G XP_011529011.1:p.Asn808Ser
XM_011530709.2:c.2423A>G XP_011529011.1:p.Asn808Ser
XM_011530710.1:c.2420A>G XP_011529012.1:p.Asn807Ser
XM_011530710.2:c.2420A>G XP_011529012.1:p.Asn807Ser
XM_011530711.1:c.2498A>G XP_011529013.1:p.Asn833Ser
XM_017028905.2:c.2423A>G XP_016884394.1:p.Asn808Ser
XR_938344.1:n.2513A>G