Canonical Allele Identifier: CA412194531

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893510T>A (hg19) ; chr22:g.50455081T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455081T>A , CM000684.2:g.50455081T>A	GRCh38
NC_000022.10:g.50893510T>A , CM000684.1:g.50893510T>A	GRCh37
NC_000022.9:g.49240376T>A	NCBI36
NG_041810.1:g.24991A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4538A>T	ENSP00000252027.8:p.Tyr1513Phe
ENST00000418590.4:c.248A>T	ENSP00000401538.2:p.Tyr83Phe
ENST00000470434.2:n.1019A>T
ENST00000684986.1:c.4619A>T	ENSP00000509117.1:p.Tyr1540Phe
ENST00000685180.1:n.2488+5453A>T
ENST00000685390.1:n.2584A>T
ENST00000685411.1:n.366A>T
ENST00000685592.1:c.850A>T
ENST00000685809.1:c.4529A>T	ENSP00000508863.1:p.Tyr1510Phe
ENST00000686029.1:c.694A>T
ENST00000686191.1:n.3816A>T
ENST00000686222.1:c.*4038A>T	ENSP00000508737.1:n.*4038A>T
ENST00000686321.1:c.712A>T
ENST00000686427.1:c.*1551A>T	ENSP00000510379.1:n.*1551A>T
ENST00000686758.1:n.2359A>T
ENST00000686801.1:c.4604A>T	ENSP00000509915.1:p.Tyr1535Phe
ENST00000686826.1:n.935A>T
ENST00000687016.1:c.4517A>T	ENSP00000509074.1:p.Tyr1506Phe
ENST00000687704.1:c.*2341A>T	ENSP00000510454.1:n.*2341A>T
ENST00000688066.1:c.4616A>T	ENSP00000510782.1:p.Tyr1539Phe
ENST00000688124.1:c.*3534A>T	ENSP00000510645.1:n.*3534A>T
ENST00000688848.1:c.*3960A>T	ENSP00000509419.1:n.*3960A>T
ENST00000688985.1:c.1617A>T	ENSP00000510477.1:n.1617A>T
ENST00000689129.1:c.4541A>T	ENSP00000510414.1:p.Tyr1514Phe
ENST00000689177.1:n.5888A>T
ENST00000689849.1:c.712A>T
ENST00000689981.1:c.4616A>T	ENSP00000509035.1:p.Tyr1539Phe
ENST00000690369.1:n.4634A>T
ENST00000690590.1:n.1663A>T
ENST00000690990.1:c.4610A>T	ENSP00000510461.1:p.Tyr1537Phe
ENST00000691233.1:c.4535A>T	ENSP00000509215.1:p.Tyr1512Phe
ENST00000691306.1:c.714A>T
ENST00000691345.1:n.2302+1135A>T
ENST00000691792.1:c.4604A>T	ENSP00000509911.1:p.Tyr1535Phe
ENST00000691959.1:n.5335A>T
ENST00000692844.1:n.1700A>T
ENST00000692946.1:c.712A>T
ENST00000693052.1:c.4634A>T	ENSP00000509558.1:p.Tyr1545Phe
ENST00000693289.1:n.1775A>T
ENST00000693440.1:c.4613A>T	ENSP00000509462.1:p.Tyr1538Phe
ENST00000693499.1:n.5541A>T
ENST00000693591.1:n.3353A>T
ENST00000380817.8:c.4616A>T MANE Select	ENSP00000370196.2:p.Tyr1539Phe
ENST00000348911.10:c.4541A>T	ENSP00000252027.7:p.Tyr1514Phe
ENST00000380817.7:c.4616A>T	ENSP00000370196.2:p.Tyr1539Phe
ENST00000418590.3:c.216A>T
ENST00000470434.1:n.757A>T
NM_002972.3:c.4616A>T	NP_002963.2:p.Tyr1539Phe
XM_005261931.1:c.4619A>T	XP_005261988.1:p.Tyr1540Phe
XM_005261935.1:c.4538A>T	XP_005261992.1:p.Tyr1513Phe
XM_011530707.1:c.4718A>T	XP_011529009.1:p.Tyr1573Phe
XM_011530708.1:c.4670A>T	XP_011529010.1:p.Tyr1557Phe
XM_011530709.1:c.4646A>T	XP_011529011.1:p.Tyr1549Phe
XM_011530710.1:c.4643A>T	XP_011529012.1:p.Tyr1548Phe
XM_011530711.1:c.4643A>T	XP_011529013.1:p.Tyr1548Phe
XR_938344.1:n.4736A>T
NM_001365819.1:c.4541A>T	NP_001352748.1:p.Tyr1514Phe
XM_005261935.2:c.4538A>T	XP_005261992.1:p.Tyr1513Phe
XM_011530709.2:c.4646A>T	XP_011529011.1:p.Tyr1549Phe
XM_011530710.2:c.4643A>T	XP_011529012.1:p.Tyr1548Phe
XM_017028905.2:c.4568A>T	XP_016884394.1:p.Tyr1523Phe
NM_002972.4:c.4616A>T MANE Select	NP_002963.2:p.Tyr1539Phe