Canonical Allele Identifier: CA412194346

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893495C>G (hg19) ; chr22:g.50455066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455066C>G , CM000684.2:g.50455066C>G	GRCh38
NC_000022.10:g.50893495C>G , CM000684.1:g.50893495C>G	GRCh37
NC_000022.9:g.49240361C>G	NCBI36
NG_041810.1:g.25006G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4553G>C	ENSP00000252027.8:p.Arg1518Pro
ENST00000418590.4:c.263G>C	ENSP00000401538.2:p.Arg88Pro
ENST00000470434.2:n.1034G>C
ENST00000684986.1:c.4634G>C	ENSP00000509117.1:p.Arg1545Pro
ENST00000685180.1:n.2488+5468G>C
ENST00000685390.1:n.2599G>C
ENST00000685411.1:n.381G>C
ENST00000685592.1:c.865G>C
ENST00000685809.1:c.4544G>C	ENSP00000508863.1:p.Arg1515Pro
ENST00000686029.1:c.709G>C
ENST00000686191.1:n.3831G>C
ENST00000686222.1:c.*4053G>C	ENSP00000508737.1:n.*4053G>C
ENST00000686321.1:c.727G>C
ENST00000686427.1:c.*1566G>C	ENSP00000510379.1:n.*1566G>C
ENST00000686758.1:n.2374G>C
ENST00000686801.1:c.4619G>C	ENSP00000509915.1:p.Arg1540Pro
ENST00000686826.1:n.950G>C
ENST00000687016.1:c.4532G>C	ENSP00000509074.1:p.Arg1511Pro
ENST00000687704.1:c.*2356G>C	ENSP00000510454.1:n.*2356G>C
ENST00000688066.1:c.4631G>C	ENSP00000510782.1:p.Arg1544Pro
ENST00000688124.1:c.*3549G>C	ENSP00000510645.1:n.*3549G>C
ENST00000688848.1:c.*3975G>C	ENSP00000509419.1:n.*3975G>C
ENST00000688985.1:c.1632G>C	ENSP00000510477.1:n.1632G>C
ENST00000689129.1:c.4556G>C	ENSP00000510414.1:p.Arg1519Pro
ENST00000689177.1:n.5903G>C
ENST00000689849.1:c.727G>C
ENST00000689981.1:c.4631G>C	ENSP00000509035.1:p.Arg1544Pro
ENST00000690369.1:n.4649G>C
ENST00000690590.1:n.1678G>C
ENST00000690990.1:c.4625G>C	ENSP00000510461.1:p.Arg1542Pro
ENST00000691233.1:c.4550G>C	ENSP00000509215.1:p.Arg1517Pro
ENST00000691306.1:c.729G>C
ENST00000691345.1:n.2302+1150G>C
ENST00000691792.1:c.4619G>C	ENSP00000509911.1:p.Arg1540Pro
ENST00000691959.1:n.5350G>C
ENST00000692844.1:n.1715G>C
ENST00000692946.1:c.727G>C
ENST00000693052.1:c.4649G>C	ENSP00000509558.1:p.Arg1550Pro
ENST00000693289.1:n.1790G>C
ENST00000693440.1:c.4628G>C	ENSP00000509462.1:p.Arg1543Pro
ENST00000693499.1:n.5556G>C
ENST00000693591.1:n.3368G>C
ENST00000380817.8:c.4631G>C MANE Select	ENSP00000370196.2:p.Arg1544Pro
ENST00000348911.10:c.4556G>C	ENSP00000252027.7:p.Arg1519Pro
ENST00000380817.7:c.4631G>C	ENSP00000370196.2:p.Arg1544Pro
ENST00000418590.3:c.231G>C
ENST00000470434.1:n.772G>C
NM_002972.3:c.4631G>C	NP_002963.2:p.Arg1544Pro
XM_005261931.1:c.4634G>C	XP_005261988.1:p.Arg1545Pro
XM_005261935.1:c.4553G>C	XP_005261992.1:p.Arg1518Pro
XM_011530707.1:c.4733G>C	XP_011529009.1:p.Arg1578Pro
XM_011530708.1:c.4685G>C	XP_011529010.1:p.Arg1562Pro
XM_011530709.1:c.4661G>C	XP_011529011.1:p.Arg1554Pro
XM_011530710.1:c.4658G>C	XP_011529012.1:p.Arg1553Pro
XM_011530711.1:c.4658G>C	XP_011529013.1:p.Arg1553Pro
XR_938344.1:n.4751G>C
NM_001365819.1:c.4556G>C	NP_001352748.1:p.Arg1519Pro
XM_005261935.2:c.4553G>C	XP_005261992.1:p.Arg1518Pro
XM_011530709.2:c.4661G>C	XP_011529011.1:p.Arg1554Pro
XM_011530710.2:c.4658G>C	XP_011529012.1:p.Arg1553Pro
XM_017028905.2:c.4583G>C	XP_016884394.1:p.Arg1528Pro
NM_002972.4:c.4631G>C MANE Select	NP_002963.2:p.Arg1544Pro