Canonical Allele Identifier: CA412195447

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455142-C-T
• MyVariant Identifiers: chr22:g.50893571C>T (hg19) ; chr22:g.50455142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455142C>T , CM000684.2:g.50455142C>T	GRCh38
NC_000022.10:g.50893571C>T , CM000684.1:g.50893571C>T	GRCh37
NC_000022.9:g.49240437C>T	NCBI36
NG_041810.1:g.24930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4477G>A	ENSP00000252027.8:p.Val1493Ile
ENST00000418590.4:c.187G>A	ENSP00000401538.2:p.Val63Ile
ENST00000470434.2:n.958G>A
ENST00000684986.1:c.4558G>A	ENSP00000509117.1:p.Val1520Ile
ENST00000685180.1:n.2488+5392G>A
ENST00000685390.1:n.2523G>A
ENST00000685411.1:n.305G>A
ENST00000685592.1:c.789G>A
ENST00000685809.1:c.4468G>A	ENSP00000508863.1:p.Val1490Ile
ENST00000686029.1:c.633G>A
ENST00000686191.1:n.3755G>A
ENST00000686222.1:c.*3977G>A	ENSP00000508737.1:n.*3977G>A
ENST00000686321.1:c.651G>A
ENST00000686427.1:c.*1490G>A	ENSP00000510379.1:n.*1490G>A
ENST00000686758.1:n.2298G>A
ENST00000686801.1:c.4543G>A	ENSP00000509915.1:p.Val1515Ile
ENST00000686826.1:n.874G>A
ENST00000687016.1:c.4456G>A	ENSP00000509074.1:p.Val1486Ile
ENST00000687704.1:c.*2280G>A	ENSP00000510454.1:n.*2280G>A
ENST00000688066.1:c.4555G>A	ENSP00000510782.1:p.Val1519Ile
ENST00000688124.1:c.*3473G>A	ENSP00000510645.1:n.*3473G>A
ENST00000688848.1:c.*3899G>A	ENSP00000509419.1:n.*3899G>A
ENST00000688985.1:c.1556G>A	ENSP00000510477.1:n.1556G>A
ENST00000689129.1:c.4480G>A	ENSP00000510414.1:p.Val1494Ile
ENST00000689177.1:n.5827G>A
ENST00000689849.1:c.651G>A
ENST00000689981.1:c.4555G>A	ENSP00000509035.1:p.Val1519Ile
ENST00000690369.1:n.4573G>A
ENST00000690590.1:n.1602G>A
ENST00000690990.1:c.4549G>A	ENSP00000510461.1:p.Val1517Ile
ENST00000691233.1:c.4474G>A	ENSP00000509215.1:p.Val1492Ile
ENST00000691306.1:c.653G>A
ENST00000691345.1:n.2302+1074G>A
ENST00000691792.1:c.4555-12G>A	ENSP00000509911.1:n.4555-12G>A
ENST00000691959.1:n.5274G>A
ENST00000692844.1:n.1639G>A
ENST00000692946.1:c.651G>A
ENST00000693052.1:c.4573G>A	ENSP00000509558.1:p.Val1525Ile
ENST00000693289.1:n.1714G>A
ENST00000693440.1:c.4552G>A	ENSP00000509462.1:p.Val1518Ile
ENST00000693499.1:n.5480G>A
ENST00000693591.1:n.3292G>A
ENST00000380817.8:c.4555G>A MANE Select	ENSP00000370196.2:p.Val1519Ile
ENST00000348911.10:c.4480G>A	ENSP00000252027.7:p.Val1494Ile
ENST00000380817.7:c.4555G>A	ENSP00000370196.2:p.Val1519Ile
ENST00000418590.3:c.155G>A
ENST00000470434.1:n.696G>A
NM_002972.3:c.4555G>A	NP_002963.2:p.Val1519Ile
XM_005261931.1:c.4558G>A	XP_005261988.1:p.Val1520Ile
XM_005261935.1:c.4477G>A	XP_005261992.1:p.Val1493Ile
XM_011530707.1:c.4657G>A	XP_011529009.1:p.Val1553Ile
XM_011530708.1:c.4609G>A	XP_011529010.1:p.Val1537Ile
XM_011530709.1:c.4585G>A	XP_011529011.1:p.Val1529Ile
XM_011530710.1:c.4582G>A	XP_011529012.1:p.Val1528Ile
XM_011530711.1:c.4582G>A	XP_011529013.1:p.Val1528Ile
XR_938344.1:n.4675G>A
NM_001365819.1:c.4480G>A	NP_001352748.1:p.Val1494Ile
XM_005261935.2:c.4477G>A	XP_005261992.1:p.Val1493Ile
XM_011530709.2:c.4585G>A	XP_011529011.1:p.Val1529Ile
XM_011530710.2:c.4582G>A	XP_011529012.1:p.Val1528Ile
XM_017028905.2:c.4507G>A	XP_016884394.1:p.Val1503Ile
NM_002972.4:c.4555G>A MANE Select	NP_002963.2:p.Val1519Ile