Canonical Allele Identifier: CA412194577

Gene: SBF1

Linked Data

• ClinVar Variation Id: 2190700
• ClinVar RCV Id: RCV002616525
• dbSNP Id: rs200471909
• gnomAD v4: 22-50455085-C-A
• MyVariant Identifiers: chr22:g.50893514C>A (hg19) ; chr22:g.50455085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455085C>A , CM000684.2:g.50455085C>A	GRCh38
NC_000022.10:g.50893514C>A , CM000684.1:g.50893514C>A	GRCh37
NC_000022.9:g.49240380C>A	NCBI36
NG_041810.1:g.24987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4534G>T	ENSP00000252027.8:p.Gly1512Cys
ENST00000418590.4:c.244G>T	ENSP00000401538.2:p.Gly82Cys
ENST00000470434.2:n.1015G>T
ENST00000684986.1:c.4615G>T	ENSP00000509117.1:p.Gly1539Cys
ENST00000685180.1:n.2488+5449G>T
ENST00000685390.1:n.2580G>T
ENST00000685411.1:n.362G>T
ENST00000685592.1:c.846G>T
ENST00000685809.1:c.4525G>T	ENSP00000508863.1:p.Gly1509Cys
ENST00000686029.1:c.690G>T
ENST00000686191.1:n.3812G>T
ENST00000686222.1:c.*4034G>T	ENSP00000508737.1:n.*4034G>T
ENST00000686321.1:c.708G>T
ENST00000686427.1:c.*1547G>T	ENSP00000510379.1:n.*1547G>T
ENST00000686758.1:n.2355G>T
ENST00000686801.1:c.4600G>T	ENSP00000509915.1:p.Gly1534Cys
ENST00000686826.1:n.931G>T
ENST00000687016.1:c.4513G>T	ENSP00000509074.1:p.Gly1505Cys
ENST00000687704.1:c.*2337G>T	ENSP00000510454.1:n.*2337G>T
ENST00000688066.1:c.4612G>T	ENSP00000510782.1:p.Gly1538Cys
ENST00000688124.1:c.*3530G>T	ENSP00000510645.1:n.*3530G>T
ENST00000688848.1:c.*3956G>T	ENSP00000509419.1:n.*3956G>T
ENST00000688985.1:c.1613G>T	ENSP00000510477.1:n.1613G>T
ENST00000689129.1:c.4537G>T	ENSP00000510414.1:p.Gly1513Cys
ENST00000689177.1:n.5884G>T
ENST00000689849.1:c.708G>T
ENST00000689981.1:c.4612G>T	ENSP00000509035.1:p.Gly1538Cys
ENST00000690369.1:n.4630G>T
ENST00000690590.1:n.1659G>T
ENST00000690990.1:c.4606G>T	ENSP00000510461.1:p.Gly1536Cys
ENST00000691233.1:c.4531G>T	ENSP00000509215.1:p.Gly1511Cys
ENST00000691306.1:c.710G>T
ENST00000691345.1:n.2302+1131G>T
ENST00000691792.1:c.4600G>T	ENSP00000509911.1:p.Gly1534Cys
ENST00000691959.1:n.5331G>T
ENST00000692844.1:n.1696G>T
ENST00000692946.1:c.708G>T
ENST00000693052.1:c.4630G>T	ENSP00000509558.1:p.Gly1544Cys
ENST00000693289.1:n.1771G>T
ENST00000693440.1:c.4609G>T	ENSP00000509462.1:p.Gly1537Cys
ENST00000693499.1:n.5537G>T
ENST00000693591.1:n.3349G>T
ENST00000380817.8:c.4612G>T MANE Select	ENSP00000370196.2:p.Gly1538Cys
ENST00000348911.10:c.4537G>T	ENSP00000252027.7:p.Gly1513Cys
ENST00000380817.7:c.4612G>T	ENSP00000370196.2:p.Gly1538Cys
ENST00000418590.3:c.212G>T
ENST00000470434.1:n.753G>T
NM_002972.3:c.4612G>T	NP_002963.2:p.Gly1538Cys
XM_005261931.1:c.4615G>T	XP_005261988.1:p.Gly1539Cys
XM_005261935.1:c.4534G>T	XP_005261992.1:p.Gly1512Cys
XM_011530707.1:c.4714G>T	XP_011529009.1:p.Gly1572Cys
XM_011530708.1:c.4666G>T	XP_011529010.1:p.Gly1556Cys
XM_011530709.1:c.4642G>T	XP_011529011.1:p.Gly1548Cys
XM_011530710.1:c.4639G>T	XP_011529012.1:p.Gly1547Cys
XM_011530711.1:c.4639G>T	XP_011529013.1:p.Gly1547Cys
XR_938344.1:n.4732G>T
NM_001365819.1:c.4537G>T	NP_001352748.1:p.Gly1513Cys
XM_005261935.2:c.4534G>T	XP_005261992.1:p.Gly1512Cys
XM_011530709.2:c.4642G>T	XP_011529011.1:p.Gly1548Cys
XM_011530710.2:c.4639G>T	XP_011529012.1:p.Gly1547Cys
XM_017028905.2:c.4564G>T	XP_016884394.1:p.Gly1522Cys
NM_002972.4:c.4612G>T MANE Select	NP_002963.2:p.Gly1538Cys