Canonical Allele Identifier: CA412194625

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893523T>G (hg19) ; chr22:g.50455094T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455094T>G , CM000684.2:g.50455094T>G	GRCh38
NC_000022.10:g.50893523T>G , CM000684.1:g.50893523T>G	GRCh37
NC_000022.9:g.49240389T>G	NCBI36
NG_041810.1:g.24978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4525A>C	ENSP00000252027.8:p.Lys1509Gln
ENST00000418590.4:c.235A>C	ENSP00000401538.2:p.Lys79Gln
ENST00000470434.2:n.1006A>C
ENST00000684986.1:c.4606A>C	ENSP00000509117.1:p.Lys1536Gln
ENST00000685180.1:n.2488+5440A>C
ENST00000685390.1:n.2571A>C
ENST00000685411.1:n.353A>C
ENST00000685592.1:c.837A>C
ENST00000685809.1:c.4516A>C	ENSP00000508863.1:p.Lys1506Gln
ENST00000686029.1:c.681A>C
ENST00000686191.1:n.3803A>C
ENST00000686222.1:c.*4025A>C	ENSP00000508737.1:n.*4025A>C
ENST00000686321.1:c.699A>C
ENST00000686427.1:c.*1538A>C	ENSP00000510379.1:n.*1538A>C
ENST00000686758.1:n.2346A>C
ENST00000686801.1:c.4591A>C	ENSP00000509915.1:p.Lys1531Gln
ENST00000686826.1:n.922A>C
ENST00000687016.1:c.4504A>C	ENSP00000509074.1:p.Lys1502Gln
ENST00000687704.1:c.*2328A>C	ENSP00000510454.1:n.*2328A>C
ENST00000688066.1:c.4603A>C	ENSP00000510782.1:p.Lys1535Gln
ENST00000688124.1:c.*3521A>C	ENSP00000510645.1:n.*3521A>C
ENST00000688848.1:c.*3947A>C	ENSP00000509419.1:n.*3947A>C
ENST00000688985.1:c.1604A>C	ENSP00000510477.1:n.1604A>C
ENST00000689129.1:c.4528A>C	ENSP00000510414.1:p.Lys1510Gln
ENST00000689177.1:n.5875A>C
ENST00000689849.1:c.699A>C
ENST00000689981.1:c.4603A>C	ENSP00000509035.1:p.Lys1535Gln
ENST00000690369.1:n.4621A>C
ENST00000690590.1:n.1650A>C
ENST00000690990.1:c.4597A>C	ENSP00000510461.1:p.Lys1533Gln
ENST00000691233.1:c.4522A>C	ENSP00000509215.1:p.Lys1508Gln
ENST00000691306.1:c.701A>C
ENST00000691345.1:n.2302+1122A>C
ENST00000691792.1:c.4591A>C	ENSP00000509911.1:p.Lys1531Gln
ENST00000691959.1:n.5322A>C
ENST00000692844.1:n.1687A>C
ENST00000692946.1:c.699A>C
ENST00000693052.1:c.4621A>C	ENSP00000509558.1:p.Lys1541Gln
ENST00000693289.1:n.1762A>C
ENST00000693440.1:c.4600A>C	ENSP00000509462.1:p.Lys1534Gln
ENST00000693499.1:n.5528A>C
ENST00000693591.1:n.3340A>C
ENST00000380817.8:c.4603A>C MANE Select	ENSP00000370196.2:p.Lys1535Gln
ENST00000348911.10:c.4528A>C	ENSP00000252027.7:p.Lys1510Gln
ENST00000380817.7:c.4603A>C	ENSP00000370196.2:p.Lys1535Gln
ENST00000418590.3:c.203A>C
ENST00000470434.1:n.744A>C
NM_002972.3:c.4603A>C	NP_002963.2:p.Lys1535Gln
XM_005261931.1:c.4606A>C	XP_005261988.1:p.Lys1536Gln
XM_005261935.1:c.4525A>C	XP_005261992.1:p.Lys1509Gln
XM_011530707.1:c.4705A>C	XP_011529009.1:p.Lys1569Gln
XM_011530708.1:c.4657A>C	XP_011529010.1:p.Lys1553Gln
XM_011530709.1:c.4633A>C	XP_011529011.1:p.Lys1545Gln
XM_011530710.1:c.4630A>C	XP_011529012.1:p.Lys1544Gln
XM_011530711.1:c.4630A>C	XP_011529013.1:p.Lys1544Gln
XR_938344.1:n.4723A>C
NM_001365819.1:c.4528A>C	NP_001352748.1:p.Lys1510Gln
XM_005261935.2:c.4525A>C	XP_005261992.1:p.Lys1509Gln
XM_011530709.2:c.4633A>C	XP_011529011.1:p.Lys1545Gln
XM_011530710.2:c.4630A>C	XP_011529012.1:p.Lys1544Gln
XM_017028905.2:c.4555A>C	XP_016884394.1:p.Lys1519Gln
NM_002972.4:c.4603A>C MANE Select	NP_002963.2:p.Lys1535Gln