Canonical Allele Identifier: CA412194621

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893522T>G (hg19) ; chr22:g.50455093T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455093T>G , CM000684.2:g.50455093T>G	GRCh38
NC_000022.10:g.50893522T>G , CM000684.1:g.50893522T>G	GRCh37
NC_000022.9:g.49240388T>G	NCBI36
NG_041810.1:g.24979A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4526A>C	ENSP00000252027.8:p.Lys1509Thr
ENST00000418590.4:c.236A>C	ENSP00000401538.2:p.Lys79Thr
ENST00000470434.2:n.1007A>C
ENST00000684986.1:c.4607A>C	ENSP00000509117.1:p.Lys1536Thr
ENST00000685180.1:n.2488+5441A>C
ENST00000685390.1:n.2572A>C
ENST00000685411.1:n.354A>C
ENST00000685592.1:c.838A>C
ENST00000685809.1:c.4517A>C	ENSP00000508863.1:p.Lys1506Thr
ENST00000686029.1:c.682A>C
ENST00000686191.1:n.3804A>C
ENST00000686222.1:c.*4026A>C	ENSP00000508737.1:n.*4026A>C
ENST00000686321.1:c.700A>C
ENST00000686427.1:c.*1539A>C	ENSP00000510379.1:n.*1539A>C
ENST00000686758.1:n.2347A>C
ENST00000686801.1:c.4592A>C	ENSP00000509915.1:p.Lys1531Thr
ENST00000686826.1:n.923A>C
ENST00000687016.1:c.4505A>C	ENSP00000509074.1:p.Lys1502Thr
ENST00000687704.1:c.*2329A>C	ENSP00000510454.1:n.*2329A>C
ENST00000688066.1:c.4604A>C	ENSP00000510782.1:p.Lys1535Thr
ENST00000688124.1:c.*3522A>C	ENSP00000510645.1:n.*3522A>C
ENST00000688848.1:c.*3948A>C	ENSP00000509419.1:n.*3948A>C
ENST00000688985.1:c.1605A>C	ENSP00000510477.1:n.1605A>C
ENST00000689129.1:c.4529A>C	ENSP00000510414.1:p.Lys1510Thr
ENST00000689177.1:n.5876A>C
ENST00000689849.1:c.700A>C
ENST00000689981.1:c.4604A>C	ENSP00000509035.1:p.Lys1535Thr
ENST00000690369.1:n.4622A>C
ENST00000690590.1:n.1651A>C
ENST00000690990.1:c.4598A>C	ENSP00000510461.1:p.Lys1533Thr
ENST00000691233.1:c.4523A>C	ENSP00000509215.1:p.Lys1508Thr
ENST00000691306.1:c.702A>C
ENST00000691345.1:n.2302+1123A>C
ENST00000691792.1:c.4592A>C	ENSP00000509911.1:p.Lys1531Thr
ENST00000691959.1:n.5323A>C
ENST00000692844.1:n.1688A>C
ENST00000692946.1:c.700A>C
ENST00000693052.1:c.4622A>C	ENSP00000509558.1:p.Lys1541Thr
ENST00000693289.1:n.1763A>C
ENST00000693440.1:c.4601A>C	ENSP00000509462.1:p.Lys1534Thr
ENST00000693499.1:n.5529A>C
ENST00000693591.1:n.3341A>C
ENST00000380817.8:c.4604A>C MANE Select	ENSP00000370196.2:p.Lys1535Thr
ENST00000348911.10:c.4529A>C	ENSP00000252027.7:p.Lys1510Thr
ENST00000380817.7:c.4604A>C	ENSP00000370196.2:p.Lys1535Thr
ENST00000418590.3:c.204A>C
ENST00000470434.1:n.745A>C
NM_002972.3:c.4604A>C	NP_002963.2:p.Lys1535Thr
XM_005261931.1:c.4607A>C	XP_005261988.1:p.Lys1536Thr
XM_005261935.1:c.4526A>C	XP_005261992.1:p.Lys1509Thr
XM_011530707.1:c.4706A>C	XP_011529009.1:p.Lys1569Thr
XM_011530708.1:c.4658A>C	XP_011529010.1:p.Lys1553Thr
XM_011530709.1:c.4634A>C	XP_011529011.1:p.Lys1545Thr
XM_011530710.1:c.4631A>C	XP_011529012.1:p.Lys1544Thr
XM_011530711.1:c.4631A>C	XP_011529013.1:p.Lys1544Thr
XR_938344.1:n.4724A>C
NM_001365819.1:c.4529A>C	NP_001352748.1:p.Lys1510Thr
XM_005261935.2:c.4526A>C	XP_005261992.1:p.Lys1509Thr
XM_011530709.2:c.4634A>C	XP_011529011.1:p.Lys1545Thr
XM_011530710.2:c.4631A>C	XP_011529012.1:p.Lys1544Thr
XM_017028905.2:c.4556A>C	XP_016884394.1:p.Lys1519Thr
NM_002972.4:c.4604A>C MANE Select	NP_002963.2:p.Lys1535Thr