Canonical Allele Identifier: CA412194204

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893477A>T (hg19) ; chr22:g.50455048A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455048A>T , CM000684.2:g.50455048A>T	GRCh38
NC_000022.10:g.50893477A>T , CM000684.1:g.50893477A>T	GRCh37
NC_000022.9:g.49240343A>T	NCBI36
NG_041810.1:g.25024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4571T>A	ENSP00000252027.8:p.Leu1524Gln
ENST00000418590.4:c.281T>A	ENSP00000401538.2:p.Leu94Gln
ENST00000470434.2:n.1052T>A
ENST00000684986.1:c.4652T>A	ENSP00000509117.1:p.Leu1551Gln
ENST00000685180.1:n.2488+5486T>A
ENST00000685390.1:n.2617T>A
ENST00000685411.1:n.399T>A
ENST00000685592.1:c.883T>A
ENST00000685809.1:c.4562T>A	ENSP00000508863.1:p.Leu1521Gln
ENST00000686029.1:c.727T>A
ENST00000686191.1:n.3849T>A
ENST00000686222.1:c.*4071T>A	ENSP00000508737.1:n.*4071T>A
ENST00000686321.1:c.745T>A
ENST00000686427.1:c.*1584T>A	ENSP00000510379.1:n.*1584T>A
ENST00000686758.1:n.2392T>A
ENST00000686801.1:c.4637T>A	ENSP00000509915.1:p.Leu1546Gln
ENST00000686826.1:n.968T>A
ENST00000687016.1:c.4550T>A	ENSP00000509074.1:p.Leu1517Gln
ENST00000687704.1:c.*2374T>A	ENSP00000510454.1:n.*2374T>A
ENST00000688066.1:c.4649T>A	ENSP00000510782.1:p.Leu1550Gln
ENST00000688124.1:c.*3567T>A	ENSP00000510645.1:n.*3567T>A
ENST00000688848.1:c.*3993T>A	ENSP00000509419.1:n.*3993T>A
ENST00000688985.1:c.1650T>A	ENSP00000510477.1:n.1650T>A
ENST00000689129.1:c.4574T>A	ENSP00000510414.1:p.Leu1525Gln
ENST00000689177.1:n.5921T>A
ENST00000689849.1:c.745T>A
ENST00000689981.1:c.4649T>A	ENSP00000509035.1:p.Leu1550Gln
ENST00000690369.1:n.4667T>A
ENST00000690590.1:n.1696T>A
ENST00000690990.1:c.4643T>A	ENSP00000510461.1:p.Leu1548Gln
ENST00000691233.1:c.4568T>A	ENSP00000509215.1:p.Leu1523Gln
ENST00000691306.1:c.747T>A
ENST00000691345.1:n.2302+1168T>A
ENST00000691792.1:c.4637T>A	ENSP00000509911.1:p.Leu1546Gln
ENST00000691959.1:n.5368T>A
ENST00000692844.1:n.1733T>A
ENST00000692946.1:c.745T>A
ENST00000693052.1:c.4667T>A	ENSP00000509558.1:p.Leu1556Gln
ENST00000693289.1:n.1808T>A
ENST00000693440.1:c.4646T>A	ENSP00000509462.1:p.Leu1549Gln
ENST00000693499.1:n.5574T>A
ENST00000693591.1:n.3386T>A
ENST00000380817.8:c.4649T>A MANE Select	ENSP00000370196.2:p.Leu1550Gln
ENST00000348911.10:c.4574T>A	ENSP00000252027.7:p.Leu1525Gln
ENST00000380817.7:c.4649T>A	ENSP00000370196.2:p.Leu1550Gln
ENST00000418590.3:c.249T>A
ENST00000470434.1:n.790T>A
NM_002972.3:c.4649T>A	NP_002963.2:p.Leu1550Gln
XM_005261931.1:c.4652T>A	XP_005261988.1:p.Leu1551Gln
XM_005261935.1:c.4571T>A	XP_005261992.1:p.Leu1524Gln
XM_011530707.1:c.4751T>A	XP_011529009.1:p.Leu1584Gln
XM_011530708.1:c.4703T>A	XP_011529010.1:p.Leu1568Gln
XM_011530709.1:c.4679T>A	XP_011529011.1:p.Leu1560Gln
XM_011530710.1:c.4676T>A	XP_011529012.1:p.Leu1559Gln
XM_011530711.1:c.4676T>A	XP_011529013.1:p.Leu1559Gln
XR_938344.1:n.4769T>A
NM_001365819.1:c.4574T>A	NP_001352748.1:p.Leu1525Gln
XM_005261935.2:c.4571T>A	XP_005261992.1:p.Leu1524Gln
XM_011530709.2:c.4679T>A	XP_011529011.1:p.Leu1560Gln
XM_011530710.2:c.4676T>A	XP_011529012.1:p.Leu1559Gln
XM_017028905.2:c.4601T>A	XP_016884394.1:p.Leu1534Gln
NM_002972.4:c.4649T>A MANE Select	NP_002963.2:p.Leu1550Gln