Canonical Allele Identifier: CA412194277

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893488G>T (hg19) ; chr22:g.50455059G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455059G>T , CM000684.2:g.50455059G>T	GRCh38
NC_000022.10:g.50893488G>T , CM000684.1:g.50893488G>T	GRCh37
NC_000022.9:g.49240354G>T	NCBI36
NG_041810.1:g.25013C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4560C>A	ENSP00000252027.8:p.Phe1520Leu
ENST00000418590.4:c.270C>A	ENSP00000401538.2:p.Phe90Leu
ENST00000470434.2:n.1041C>A
ENST00000684986.1:c.4641C>A	ENSP00000509117.1:p.Phe1547Leu
ENST00000685180.1:n.2488+5475C>A
ENST00000685390.1:n.2606C>A
ENST00000685411.1:n.388C>A
ENST00000685592.1:c.872C>A
ENST00000685809.1:c.4551C>A	ENSP00000508863.1:p.Phe1517Leu
ENST00000686029.1:c.716C>A
ENST00000686191.1:n.3838C>A
ENST00000686222.1:c.*4060C>A	ENSP00000508737.1:n.*4060C>A
ENST00000686321.1:c.734C>A
ENST00000686427.1:c.*1573C>A	ENSP00000510379.1:n.*1573C>A
ENST00000686758.1:n.2381C>A
ENST00000686801.1:c.4626C>A	ENSP00000509915.1:p.Phe1542Leu
ENST00000686826.1:n.957C>A
ENST00000687016.1:c.4539C>A	ENSP00000509074.1:p.Phe1513Leu
ENST00000687704.1:c.*2363C>A	ENSP00000510454.1:n.*2363C>A
ENST00000688066.1:c.4638C>A	ENSP00000510782.1:p.Phe1546Leu
ENST00000688124.1:c.*3556C>A	ENSP00000510645.1:n.*3556C>A
ENST00000688848.1:c.*3982C>A	ENSP00000509419.1:n.*3982C>A
ENST00000688985.1:c.1639C>A	ENSP00000510477.1:n.1639C>A
ENST00000689129.1:c.4563C>A	ENSP00000510414.1:p.Phe1521Leu
ENST00000689177.1:n.5910C>A
ENST00000689849.1:c.734C>A
ENST00000689981.1:c.4638C>A	ENSP00000509035.1:p.Phe1546Leu
ENST00000690369.1:n.4656C>A
ENST00000690590.1:n.1685C>A
ENST00000690990.1:c.4632C>A	ENSP00000510461.1:p.Phe1544Leu
ENST00000691233.1:c.4557C>A	ENSP00000509215.1:p.Phe1519Leu
ENST00000691306.1:c.736C>A
ENST00000691345.1:n.2302+1157C>A
ENST00000691792.1:c.4626C>A	ENSP00000509911.1:p.Phe1542Leu
ENST00000691959.1:n.5357C>A
ENST00000692844.1:n.1722C>A
ENST00000692946.1:c.734C>A
ENST00000693052.1:c.4656C>A	ENSP00000509558.1:p.Phe1552Leu
ENST00000693289.1:n.1797C>A
ENST00000693440.1:c.4635C>A	ENSP00000509462.1:p.Phe1545Leu
ENST00000693499.1:n.5563C>A
ENST00000693591.1:n.3375C>A
ENST00000380817.8:c.4638C>A MANE Select	ENSP00000370196.2:p.Phe1546Leu
ENST00000348911.10:c.4563C>A	ENSP00000252027.7:p.Phe1521Leu
ENST00000380817.7:c.4638C>A	ENSP00000370196.2:p.Phe1546Leu
ENST00000418590.3:c.238C>A
ENST00000470434.1:n.779C>A
NM_002972.3:c.4638C>A	NP_002963.2:p.Phe1546Leu
XM_005261931.1:c.4641C>A	XP_005261988.1:p.Phe1547Leu
XM_005261935.1:c.4560C>A	XP_005261992.1:p.Phe1520Leu
XM_011530707.1:c.4740C>A	XP_011529009.1:p.Phe1580Leu
XM_011530708.1:c.4692C>A	XP_011529010.1:p.Phe1564Leu
XM_011530709.1:c.4668C>A	XP_011529011.1:p.Phe1556Leu
XM_011530710.1:c.4665C>A	XP_011529012.1:p.Phe1555Leu
XM_011530711.1:c.4665C>A	XP_011529013.1:p.Phe1555Leu
XR_938344.1:n.4758C>A
NM_001365819.1:c.4563C>A	NP_001352748.1:p.Phe1521Leu
XM_005261935.2:c.4560C>A	XP_005261992.1:p.Phe1520Leu
XM_011530709.2:c.4668C>A	XP_011529011.1:p.Phe1556Leu
XM_011530710.2:c.4665C>A	XP_011529012.1:p.Phe1555Leu
XM_017028905.2:c.4590C>A	XP_016884394.1:p.Phe1530Leu
NM_002972.4:c.4638C>A MANE Select	NP_002963.2:p.Phe1546Leu