Canonical Allele Identifier: CA412193332

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893317A>T (hg19) ; chr22:g.50454888A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454888A>T , CM000684.2:g.50454888A>T	GRCh38
NC_000022.10:g.50893317A>T , CM000684.1:g.50893317A>T	GRCh37
NC_000022.9:g.49240183A>T	NCBI36
NG_041810.1:g.25184T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4660T>A	ENSP00000252027.8:p.Trp1554Arg
ENST00000418590.4:c.370T>A	ENSP00000401538.2:p.Trp124Arg
ENST00000470434.2:n.1141T>A
ENST00000684986.1:c.4741T>A	ENSP00000509117.1:p.Trp1581Arg
ENST00000685180.1:n.2488+5646T>A
ENST00000685390.1:n.2706T>A
ENST00000685411.1:n.488T>A
ENST00000685592.1:c.972T>A
ENST00000685809.1:c.4651T>A	ENSP00000508863.1:p.Trp1551Arg
ENST00000686029.1:c.816T>A
ENST00000686191.1:n.3938T>A
ENST00000686222.1:c.*4160T>A	ENSP00000508737.1:n.*4160T>A
ENST00000686321.1:c.834T>A
ENST00000686427.1:c.*1673T>A	ENSP00000510379.1:n.*1673T>A
ENST00000686758.1:n.2552T>A
ENST00000686801.1:c.4726T>A	ENSP00000509915.1:p.Trp1576Arg
ENST00000686826.1:n.1057T>A
ENST00000687016.1:c.4639T>A	ENSP00000509074.1:p.Trp1547Arg
ENST00000687704.1:c.*2463T>A	ENSP00000510454.1:n.*2463T>A
ENST00000688066.1:c.4738T>A	ENSP00000510782.1:p.Trp1580Arg
ENST00000688124.1:c.*3656T>A	ENSP00000510645.1:n.*3656T>A
ENST00000688848.1:c.*4082T>A	ENSP00000509419.1:n.*4082T>A
ENST00000688985.1:c.1739T>A	ENSP00000510477.1:n.1739T>A
ENST00000689129.1:c.4663T>A	ENSP00000510414.1:p.Trp1555Arg
ENST00000689177.1:n.6010T>A
ENST00000689849.1:c.834T>A
ENST00000689981.1:c.4738T>A	ENSP00000509035.1:p.Trp1580Arg
ENST00000690369.1:n.4756T>A
ENST00000690590.1:n.1785T>A
ENST00000690990.1:c.4732T>A	ENSP00000510461.1:p.Trp1578Arg
ENST00000691233.1:c.4657T>A	ENSP00000509215.1:p.Trp1553Arg
ENST00000691306.1:c.819T>A
ENST00000691345.1:n.2302+1328T>A
ENST00000691792.1:c.4726T>A	ENSP00000509911.1:p.Trp1576Arg
ENST00000691959.1:n.5457T>A
ENST00000692844.1:n.1822T>A
ENST00000692946.1:c.834T>A
ENST00000693052.1:c.4756T>A	ENSP00000509558.1:p.Trp1586Arg
ENST00000693289.1:n.1897T>A
ENST00000693440.1:c.4735T>A	ENSP00000509462.1:p.Trp1579Arg
ENST00000693499.1:n.5734T>A
ENST00000693591.1:n.3546T>A
ENST00000380817.8:c.4738T>A MANE Select	ENSP00000370196.2:p.Trp1580Arg
ENST00000348911.10:c.4663T>A	ENSP00000252027.7:p.Trp1555Arg
ENST00000380817.7:c.4738T>A	ENSP00000370196.2:p.Trp1580Arg
ENST00000418590.3:c.338T>A
ENST00000470434.1:n.879T>A
NM_002972.3:c.4738T>A	NP_002963.2:p.Trp1580Arg
XM_005261931.1:c.4741T>A	XP_005261988.1:p.Trp1581Arg
XM_005261935.1:c.4660T>A	XP_005261992.1:p.Trp1554Arg
XM_011530707.1:c.4840T>A	XP_011529009.1:p.Trp1614Arg
XM_011530708.1:c.4792T>A	XP_011529010.1:p.Trp1598Arg
XM_011530709.1:c.4768T>A	XP_011529011.1:p.Trp1590Arg
XM_011530710.1:c.4765T>A	XP_011529012.1:p.Trp1589Arg
XM_011530711.1:c.4765T>A	XP_011529013.1:p.Trp1589Arg
XR_938344.1:n.4858T>A
NM_001365819.1:c.4663T>A	NP_001352748.1:p.Trp1555Arg
XM_005261935.2:c.4660T>A	XP_005261992.1:p.Trp1554Arg
XM_011530709.2:c.4768T>A	XP_011529011.1:p.Trp1590Arg
XM_011530710.2:c.4765T>A	XP_011529012.1:p.Trp1589Arg
XM_017028905.2:c.4690T>A	XP_016884394.1:p.Trp1564Arg
NM_002972.4:c.4738T>A MANE Select	NP_002963.2:p.Trp1580Arg