Canonical Allele Identifier: CA10316178

Gene: SBF1

Linked Data

• dbSNP Id: rs767346084
• ExAC: 22:50893457 G / A
• gnomAD v2: 22-50893457-G-A
• gnomAD v4: 22-50455028-G-A
• COSMIC: COSM4105147 ; COSM4105148
• MyVariant Identifiers: chr22:g.50893457G>A (hg19) ; chr22:g.50455028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455028G>A , CM000684.2:g.50455028G>A	GRCh38
NC_000022.10:g.50893457G>A , CM000684.1:g.50893457G>A	GRCh37
NC_000022.9:g.49240323G>A	NCBI36
NG_041810.1:g.25044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4591C>T	ENSP00000252027.8:p.Arg1531Cys
ENST00000418590.4:c.301C>T	ENSP00000401538.2:p.Arg101Cys
ENST00000470434.2:n.1072C>T
ENST00000684986.1:c.4672C>T	ENSP00000509117.1:p.Arg1558Cys
ENST00000685180.1:n.2488+5506C>T
ENST00000685390.1:n.2637C>T
ENST00000685411.1:n.419C>T
ENST00000685592.1:c.903C>T
ENST00000685809.1:c.4582C>T	ENSP00000508863.1:p.Arg1528Cys
ENST00000686029.1:c.747C>T
ENST00000686191.1:n.3869C>T
ENST00000686222.1:c.*4091C>T	ENSP00000508737.1:n.*4091C>T
ENST00000686321.1:c.765C>T
ENST00000686427.1:c.*1604C>T	ENSP00000510379.1:n.*1604C>T
ENST00000686758.1:n.2412C>T
ENST00000686801.1:c.4657C>T	ENSP00000509915.1:p.Arg1553Cys
ENST00000686826.1:n.988C>T
ENST00000687016.1:c.4570C>T	ENSP00000509074.1:p.Arg1524Cys
ENST00000687704.1:c.*2394C>T	ENSP00000510454.1:n.*2394C>T
ENST00000688066.1:c.4669C>T	ENSP00000510782.1:p.Arg1557Cys
ENST00000688124.1:c.*3587C>T	ENSP00000510645.1:n.*3587C>T
ENST00000688848.1:c.*4013C>T	ENSP00000509419.1:n.*4013C>T
ENST00000688985.1:c.1670C>T	ENSP00000510477.1:n.1670C>T
ENST00000689129.1:c.4594C>T	ENSP00000510414.1:p.Arg1532Cys
ENST00000689177.1:n.5941C>T
ENST00000689849.1:c.765C>T
ENST00000689981.1:c.4669C>T	ENSP00000509035.1:p.Arg1557Cys
ENST00000690369.1:n.4687C>T
ENST00000690590.1:n.1716C>T
ENST00000690990.1:c.4663C>T	ENSP00000510461.1:p.Arg1555Cys
ENST00000691233.1:c.4588C>T	ENSP00000509215.1:p.Arg1530Cys
ENST00000691306.1:c.767C>T
ENST00000691345.1:n.2302+1188C>T
ENST00000691792.1:c.4657C>T	ENSP00000509911.1:p.Arg1553Cys
ENST00000691959.1:n.5388C>T
ENST00000692844.1:n.1753C>T
ENST00000692946.1:c.765C>T
ENST00000693052.1:c.4687C>T	ENSP00000509558.1:p.Arg1563Cys
ENST00000693289.1:n.1828C>T
ENST00000693440.1:c.4666C>T	ENSP00000509462.1:p.Arg1556Cys
ENST00000693499.1:n.5594C>T
ENST00000693591.1:n.3406C>T
ENST00000380817.8:c.4669C>T MANE Select	ENSP00000370196.2:p.Arg1557Cys
ENST00000348911.10:c.4594C>T	ENSP00000252027.7:p.Arg1532Cys
ENST00000380817.7:c.4669C>T	ENSP00000370196.2:p.Arg1557Cys
ENST00000418590.3:c.269C>T
ENST00000470434.1:n.810C>T
NM_002972.3:c.4669C>T	NP_002963.2:p.Arg1557Cys
XM_005261931.1:c.4672C>T	XP_005261988.1:p.Arg1558Cys
XM_005261935.1:c.4591C>T	XP_005261992.1:p.Arg1531Cys
XM_011530707.1:c.4771C>T	XP_011529009.1:p.Arg1591Cys
XM_011530708.1:c.4723C>T	XP_011529010.1:p.Arg1575Cys
XM_011530709.1:c.4699C>T	XP_011529011.1:p.Arg1567Cys
XM_011530710.1:c.4696C>T	XP_011529012.1:p.Arg1566Cys
XM_011530711.1:c.4696C>T	XP_011529013.1:p.Arg1566Cys
XR_938344.1:n.4789C>T
NM_001365819.1:c.4594C>T	NP_001352748.1:p.Arg1532Cys
XM_005261935.2:c.4591C>T	XP_005261992.1:p.Arg1531Cys
XM_011530709.2:c.4699C>T	XP_011529011.1:p.Arg1567Cys
XM_011530710.2:c.4696C>T	XP_011529012.1:p.Arg1566Cys
XM_017028905.2:c.4621C>T	XP_016884394.1:p.Arg1541Cys
NM_002972.4:c.4669C>T MANE Select	NP_002963.2:p.Arg1557Cys