Canonical Allele Identifier: CA10316195

Gene: SBF1

Linked Data

• dbSNP Id: rs771711188
• ExAC: 22:50893521 C / T
• gnomAD v2: 22-50893521-C-T
• gnomAD v4: 22-50455092-C-T
• MyVariant Identifiers: chr22:g.50893521C>T (hg19) ; chr22:g.50455092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455092C>T , CM000684.2:g.50455092C>T	GRCh38
NC_000022.10:g.50893521C>T , CM000684.1:g.50893521C>T	GRCh37
NC_000022.9:g.49240387C>T	NCBI36
NG_041810.1:g.24980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4527G>A	ENSP00000252027.8:p.Lys1509=
ENST00000418590.4:c.237G>A	ENSP00000401538.2:p.Lys79=
ENST00000470434.2:n.1008G>A
ENST00000684986.1:c.4608G>A	ENSP00000509117.1:p.Lys1536=
ENST00000685180.1:n.2488+5442G>A
ENST00000685390.1:n.2573G>A
ENST00000685411.1:n.355G>A
ENST00000685592.1:c.839G>A
ENST00000685809.1:c.4518G>A	ENSP00000508863.1:p.Lys1506=
ENST00000686029.1:c.683G>A
ENST00000686191.1:n.3805G>A
ENST00000686222.1:c.*4027G>A	ENSP00000508737.1:n.*4027G>A
ENST00000686321.1:c.701G>A
ENST00000686427.1:c.*1540G>A	ENSP00000510379.1:n.*1540G>A
ENST00000686758.1:n.2348G>A
ENST00000686801.1:c.4593G>A	ENSP00000509915.1:p.Lys1531=
ENST00000686826.1:n.924G>A
ENST00000687016.1:c.4506G>A	ENSP00000509074.1:p.Lys1502=
ENST00000687704.1:c.*2330G>A	ENSP00000510454.1:n.*2330G>A
ENST00000688066.1:c.4605G>A	ENSP00000510782.1:p.Lys1535=
ENST00000688124.1:c.*3523G>A	ENSP00000510645.1:n.*3523G>A
ENST00000688848.1:c.*3949G>A	ENSP00000509419.1:n.*3949G>A
ENST00000688985.1:c.1606G>A	ENSP00000510477.1:n.1606G>A
ENST00000689129.1:c.4530G>A	ENSP00000510414.1:p.Lys1510=
ENST00000689177.1:n.5877G>A
ENST00000689849.1:c.701G>A
ENST00000689981.1:c.4605G>A	ENSP00000509035.1:p.Lys1535=
ENST00000690369.1:n.4623G>A
ENST00000690590.1:n.1652G>A
ENST00000690990.1:c.4599G>A	ENSP00000510461.1:p.Lys1533=
ENST00000691233.1:c.4524G>A	ENSP00000509215.1:p.Lys1508=
ENST00000691306.1:c.703G>A
ENST00000691345.1:n.2302+1124G>A
ENST00000691792.1:c.4593G>A	ENSP00000509911.1:p.Lys1531=
ENST00000691959.1:n.5324G>A
ENST00000692844.1:n.1689G>A
ENST00000692946.1:c.701G>A
ENST00000693052.1:c.4623G>A	ENSP00000509558.1:p.Lys1541=
ENST00000693289.1:n.1764G>A
ENST00000693440.1:c.4602G>A	ENSP00000509462.1:p.Lys1534=
ENST00000693499.1:n.5530G>A
ENST00000693591.1:n.3342G>A
ENST00000380817.8:c.4605G>A MANE Select	ENSP00000370196.2:p.Lys1535=
ENST00000348911.10:c.4530G>A	ENSP00000252027.7:p.Lys1510=
ENST00000380817.7:c.4605G>A	ENSP00000370196.2:p.Lys1535=
ENST00000418590.3:c.205G>A
ENST00000470434.1:n.746G>A
NM_002972.3:c.4605G>A	NP_002963.2:p.Lys1535=
XM_005261931.1:c.4608G>A	XP_005261988.1:p.Lys1536=
XM_005261935.1:c.4527G>A	XP_005261992.1:p.Lys1509=
XM_011530707.1:c.4707G>A	XP_011529009.1:p.Lys1569=
XM_011530708.1:c.4659G>A	XP_011529010.1:p.Lys1553=
XM_011530709.1:c.4635G>A	XP_011529011.1:p.Lys1545=
XM_011530710.1:c.4632G>A	XP_011529012.1:p.Lys1544=
XM_011530711.1:c.4632G>A	XP_011529013.1:p.Lys1544=
XR_938344.1:n.4725G>A
NM_001365819.1:c.4530G>A	NP_001352748.1:p.Lys1510=
XM_005261935.2:c.4527G>A	XP_005261992.1:p.Lys1509=
XM_011530709.2:c.4635G>A	XP_011529011.1:p.Lys1545=
XM_011530710.2:c.4632G>A	XP_011529012.1:p.Lys1544=
XM_017028905.2:c.4557G>A	XP_016884394.1:p.Lys1519=
NM_002972.4:c.4605G>A MANE Select	NP_002963.2:p.Lys1535=