Canonical Allele Identifier: CA412194636

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893527G>T (hg19) ; chr22:g.50455098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455098G>T , CM000684.2:g.50455098G>T	GRCh38
NC_000022.10:g.50893527G>T , CM000684.1:g.50893527G>T	GRCh37
NC_000022.9:g.49240393G>T	NCBI36
NG_041810.1:g.24974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4521C>A	ENSP00000252027.8:p.Tyr1507Ter
ENST00000418590.4:c.231C>A	ENSP00000401538.2:p.Tyr77Ter
ENST00000470434.2:n.1002C>A
ENST00000684986.1:c.4602C>A	ENSP00000509117.1:p.Tyr1534Ter
ENST00000685180.1:n.2488+5436C>A
ENST00000685390.1:n.2567C>A
ENST00000685411.1:n.349C>A
ENST00000685592.1:c.833C>A
ENST00000685809.1:c.4512C>A	ENSP00000508863.1:p.Tyr1504Ter
ENST00000686029.1:c.677C>A
ENST00000686191.1:n.3799C>A
ENST00000686222.1:c.*4021C>A	ENSP00000508737.1:n.*4021C>A
ENST00000686321.1:c.695C>A
ENST00000686427.1:c.*1534C>A	ENSP00000510379.1:n.*1534C>A
ENST00000686758.1:n.2342C>A
ENST00000686801.1:c.4587C>A	ENSP00000509915.1:p.Tyr1529Ter
ENST00000686826.1:n.918C>A
ENST00000687016.1:c.4500C>A	ENSP00000509074.1:p.Tyr1500Ter
ENST00000687704.1:c.*2324C>A	ENSP00000510454.1:n.*2324C>A
ENST00000688066.1:c.4599C>A	ENSP00000510782.1:p.Tyr1533Ter
ENST00000688124.1:c.*3517C>A	ENSP00000510645.1:n.*3517C>A
ENST00000688848.1:c.*3943C>A	ENSP00000509419.1:n.*3943C>A
ENST00000688985.1:c.1600C>A	ENSP00000510477.1:n.1600C>A
ENST00000689129.1:c.4524C>A	ENSP00000510414.1:p.Tyr1508Ter
ENST00000689177.1:n.5871C>A
ENST00000689849.1:c.695C>A
ENST00000689981.1:c.4599C>A	ENSP00000509035.1:p.Tyr1533Ter
ENST00000690369.1:n.4617C>A
ENST00000690590.1:n.1646C>A
ENST00000690990.1:c.4593C>A	ENSP00000510461.1:p.Tyr1531Ter
ENST00000691233.1:c.4518C>A	ENSP00000509215.1:p.Tyr1506Ter
ENST00000691306.1:c.697C>A
ENST00000691345.1:n.2302+1118C>A
ENST00000691792.1:c.4587C>A	ENSP00000509911.1:p.Tyr1529Ter
ENST00000691959.1:n.5318C>A
ENST00000692844.1:n.1683C>A
ENST00000692946.1:c.695C>A
ENST00000693052.1:c.4617C>A	ENSP00000509558.1:p.Tyr1539Ter
ENST00000693289.1:n.1758C>A
ENST00000693440.1:c.4596C>A	ENSP00000509462.1:p.Tyr1532Ter
ENST00000693499.1:n.5524C>A
ENST00000693591.1:n.3336C>A
ENST00000380817.8:c.4599C>A MANE Select	ENSP00000370196.2:p.Tyr1533Ter
ENST00000348911.10:c.4524C>A	ENSP00000252027.7:p.Tyr1508Ter
ENST00000380817.7:c.4599C>A	ENSP00000370196.2:p.Tyr1533Ter
ENST00000418590.3:c.199C>A
ENST00000470434.1:n.740C>A
NM_002972.3:c.4599C>A	NP_002963.2:p.Tyr1533Ter
XM_005261931.1:c.4602C>A	XP_005261988.1:p.Tyr1534Ter
XM_005261935.1:c.4521C>A	XP_005261992.1:p.Tyr1507Ter
XM_011530707.1:c.4701C>A	XP_011529009.1:p.Tyr1567Ter
XM_011530708.1:c.4653C>A	XP_011529010.1:p.Tyr1551Ter
XM_011530709.1:c.4629C>A	XP_011529011.1:p.Tyr1543Ter
XM_011530710.1:c.4626C>A	XP_011529012.1:p.Tyr1542Ter
XM_011530711.1:c.4626C>A	XP_011529013.1:p.Tyr1542Ter
XR_938344.1:n.4719C>A
NM_001365819.1:c.4524C>A	NP_001352748.1:p.Tyr1508Ter
XM_005261935.2:c.4521C>A	XP_005261992.1:p.Tyr1507Ter
XM_011530709.2:c.4629C>A	XP_011529011.1:p.Tyr1543Ter
XM_011530710.2:c.4626C>A	XP_011529012.1:p.Tyr1542Ter
XM_017028905.2:c.4551C>A	XP_016884394.1:p.Tyr1517Ter
NM_002972.4:c.4599C>A MANE Select	NP_002963.2:p.Tyr1533Ter