Canonical Allele Identifier: CA10317061
Community Standard Title: NM_002972.4(SBF1):c.2763A>G (p.Ala921=)
Gene: SBF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50461599T>C , CM000684.2:g.50461599T>C GRCh38
NC_000022.10:g.50900028T>C , CM000684.1:g.50900028T>C GRCh37
NC_000022.9:g.49246894T>C NCBI36
NG_041810.1:g.18473A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002972.4:c.2763A>G MANE Select NP_002963.2:p.Ala921=
ENST00000380817.8:c.2763A>G MANE Select ENSP00000370196.2:p.Ala921=
NM_001365819.1:c.2766A>G NP_001352748.1:p.Ala922=
NM_002972.3:c.2763A>G NP_002963.2:p.Ala921=
ENST00000348911.10:c.2766A>G ENSP00000252027.7:p.Ala922=
ENST00000348911.11:c.2763A>G ENSP00000252027.8:p.Ala921=
ENST00000380817.7:c.2763A>G ENSP00000370196.2:p.Ala921=
ENST00000684986.1:c.2766A>G ENSP00000509117.1:p.Ala922=
ENST00000685180.1:n.2309+348A>G
ENST00000685386.1:c.633A>G ENSP00000510338.1:p.Ala211=
ENST00000685390.1:n.1006A>G
ENST00000685809.1:c.2754A>G ENSP00000508863.1:p.Ala918=
ENST00000686222.1:c.*2185A>G ENSP00000508737.1:n.*2185A>G
ENST00000686427.1:c.2763A>G ENSP00000510379.1:p.Ala921=
ENST00000686801.1:c.2751A>G ENSP00000509915.1:p.Ala917=
ENST00000687016.1:c.2742A>G ENSP00000509074.1:p.Ala914=
ENST00000687704.1:c.*577A>G ENSP00000510454.1:n.*577A>G
ENST00000688030.1:c.572A>G ENSP00000508668.1:p.His191Arg
ENST00000688066.1:c.2763A>G ENSP00000510782.1:p.Ala921=
ENST00000688124.1:c.*1757A>G ENSP00000510645.1:n.*1757A>G
ENST00000688848.1:c.*2185A>G ENSP00000509419.1:n.*2185A>G
ENST00000689129.1:c.2766A>G ENSP00000510414.1:p.Ala922=
ENST00000689177.1:n.614A>G
ENST00000689981.1:c.2763A>G ENSP00000509035.1:p.Ala921=
ENST00000690369.1:n.2781A>G
ENST00000690990.1:c.2757A>G ENSP00000510461.1:p.Ala919=
ENST00000691233.1:c.2760A>G ENSP00000509215.1:p.Ala920=
ENST00000691345.1:n.1264A>G
ENST00000691792.1:c.2763A>G ENSP00000509911.1:p.Ala921=
ENST00000691959.1:n.2642A>G
ENST00000693052.1:c.2763A>G ENSP00000509558.1:p.Ala921=
ENST00000693440.1:c.2760A>G ENSP00000509462.1:p.Ala920=
ENST00000693499.1:n.2408A>G
XM_005261931.1:c.2766A>G XP_005261988.1:p.Ala922=
XM_005261935.1:c.2763A>G XP_005261992.1:p.Ala921=
XM_005261935.2:c.2763A>G XP_005261992.1:p.Ala921=
XM_011530707.1:c.2865A>G XP_011529009.1:p.Ala955=
XM_011530708.1:c.2817A>G XP_011529010.1:p.Ala939=
XM_011530709.1:c.2793A>G XP_011529011.1:p.Ala931=
XM_011530709.2:c.2793A>G XP_011529011.1:p.Ala931=
XM_011530710.1:c.2790A>G XP_011529012.1:p.Ala930=
XM_011530710.2:c.2790A>G XP_011529012.1:p.Ala930=
XM_011530711.1:c.2868A>G XP_011529013.1:p.Ala956=
XM_017028905.2:c.2793A>G XP_016884394.1:p.Ala931=
XR_938344.1:n.2883A>G