Canonical Allele Identifier: CA412208503

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50461651A>T , CM000684.2:g.50461651A>T	GRCh38
NC_000022.10:g.50900080A>T , CM000684.1:g.50900080A>T	GRCh37
NC_000022.9:g.49246946A>T	NCBI36
NG_041810.1:g.18421T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.2711T>A	ENSP00000252027.8:p.Leu904Gln
ENST00000684986.1:c.2714T>A	ENSP00000509117.1:p.Leu905Gln
ENST00000685180.1:n.2309+296T>A
ENST00000685386.1:c.581T>A	ENSP00000510338.1:p.Leu194Gln
ENST00000685390.1:n.954T>A
ENST00000685809.1:c.2702T>A	ENSP00000508863.1:p.Leu901Gln
ENST00000686222.1:c.*2133T>A	ENSP00000508737.1:n.*2133T>A
ENST00000686427.1:c.2711T>A	ENSP00000510379.1:p.Leu904Gln
ENST00000686801.1:c.2699T>A	ENSP00000509915.1:p.Leu900Gln
ENST00000687016.1:c.2690T>A	ENSP00000509074.1:p.Leu897Gln
ENST00000687704.1:c.*525T>A	ENSP00000510454.1:n.*525T>A
ENST00000688030.1:c.520T>A	ENSP00000508668.1:p.Cys174Ser
ENST00000688066.1:c.2711T>A	ENSP00000510782.1:p.Leu904Gln
ENST00000688124.1:c.*1705T>A	ENSP00000510645.1:n.*1705T>A
ENST00000688848.1:c.*2133T>A	ENSP00000509419.1:n.*2133T>A
ENST00000689129.1:c.2714T>A	ENSP00000510414.1:p.Leu905Gln
ENST00000689177.1:n.562T>A
ENST00000689981.1:c.2711T>A	ENSP00000509035.1:p.Leu904Gln
ENST00000690369.1:n.2729T>A
ENST00000690990.1:c.2705T>A	ENSP00000510461.1:p.Leu902Gln
ENST00000691233.1:c.2708T>A	ENSP00000509215.1:p.Leu903Gln
ENST00000691345.1:n.1212T>A
ENST00000691792.1:c.2711T>A	ENSP00000509911.1:p.Leu904Gln
ENST00000691959.1:n.2590T>A
ENST00000693052.1:c.2711T>A	ENSP00000509558.1:p.Leu904Gln
ENST00000693440.1:c.2708T>A	ENSP00000509462.1:p.Leu903Gln
ENST00000693499.1:n.2356T>A
ENST00000380817.8:c.2711T>A MANE Select	ENSP00000370196.2:p.Leu904Gln
ENST00000348911.10:c.2714T>A	ENSP00000252027.7:p.Leu905Gln
ENST00000380817.7:c.2711T>A	ENSP00000370196.2:p.Leu904Gln
NM_002972.3:c.2711T>A	NP_002963.2:p.Leu904Gln
XM_005261931.1:c.2714T>A	XP_005261988.1:p.Leu905Gln
XM_005261935.1:c.2711T>A	XP_005261992.1:p.Leu904Gln
XM_011530707.1:c.2813T>A	XP_011529009.1:p.Leu938Gln
XM_011530708.1:c.2765T>A	XP_011529010.1:p.Leu922Gln
XM_011530709.1:c.2741T>A	XP_011529011.1:p.Leu914Gln
XM_011530710.1:c.2738T>A	XP_011529012.1:p.Leu913Gln
XM_011530711.1:c.2816T>A	XP_011529013.1:p.Leu939Gln
XR_938344.1:n.2831T>A
NM_001365819.1:c.2714T>A	NP_001352748.1:p.Leu905Gln
XM_005261935.2:c.2711T>A	XP_005261992.1:p.Leu904Gln
XM_011530709.2:c.2741T>A	XP_011529011.1:p.Leu914Gln
XM_011530710.2:c.2738T>A	XP_011529012.1:p.Leu913Gln
XM_017028905.2:c.2741T>A	XP_016884394.1:p.Leu914Gln
NM_002972.4:c.2711T>A MANE Select	NP_002963.2:p.Leu904Gln