Canonical Allele Identifier: CA412194347

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455066-C-A
• MyVariant Identifiers: chr22:g.50893495C>A (hg19) ; chr22:g.50455066C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4553G>T	ENSP00000252027.8:p.Arg1518Leu
ENST00000418590.4:c.263G>T	ENSP00000401538.2:p.Arg88Leu
ENST00000470434.2:n.1034G>T
ENST00000684986.1:c.4634G>T	ENSP00000509117.1:p.Arg1545Leu
ENST00000685180.1:n.2488+5468G>T
ENST00000685390.1:n.2599G>T
ENST00000685411.1:n.381G>T
ENST00000685592.1:c.865G>T
ENST00000685809.1:c.4544G>T	ENSP00000508863.1:p.Arg1515Leu
ENST00000686029.1:c.709G>T
ENST00000686191.1:n.3831G>T
ENST00000686222.1:c.*4053G>T	ENSP00000508737.1:n.*4053G>T
ENST00000686321.1:c.727G>T
ENST00000686427.1:c.*1566G>T	ENSP00000510379.1:n.*1566G>T
ENST00000686758.1:n.2374G>T
ENST00000686801.1:c.4619G>T	ENSP00000509915.1:p.Arg1540Leu
ENST00000686826.1:n.950G>T
ENST00000687016.1:c.4532G>T	ENSP00000509074.1:p.Arg1511Leu
ENST00000687704.1:c.*2356G>T	ENSP00000510454.1:n.*2356G>T
ENST00000688066.1:c.4631G>T	ENSP00000510782.1:p.Arg1544Leu
ENST00000688124.1:c.*3549G>T	ENSP00000510645.1:n.*3549G>T
ENST00000688848.1:c.*3975G>T	ENSP00000509419.1:n.*3975G>T
ENST00000688985.1:c.1632G>T	ENSP00000510477.1:n.1632G>T
ENST00000689129.1:c.4556G>T	ENSP00000510414.1:p.Arg1519Leu
ENST00000689177.1:n.5903G>T
ENST00000689849.1:c.727G>T
ENST00000689981.1:c.4631G>T	ENSP00000509035.1:p.Arg1544Leu
ENST00000690369.1:n.4649G>T
ENST00000690590.1:n.1678G>T
ENST00000690990.1:c.4625G>T	ENSP00000510461.1:p.Arg1542Leu
ENST00000691233.1:c.4550G>T	ENSP00000509215.1:p.Arg1517Leu
ENST00000691306.1:c.729G>T
ENST00000691345.1:n.2302+1150G>T
ENST00000691792.1:c.4619G>T	ENSP00000509911.1:p.Arg1540Leu
ENST00000691959.1:n.5350G>T
ENST00000692844.1:n.1715G>T
ENST00000692946.1:c.727G>T
ENST00000693052.1:c.4649G>T	ENSP00000509558.1:p.Arg1550Leu
ENST00000693289.1:n.1790G>T
ENST00000693440.1:c.4628G>T	ENSP00000509462.1:p.Arg1543Leu
ENST00000693499.1:n.5556G>T
ENST00000693591.1:n.3368G>T
ENST00000380817.8:c.4631G>T MANE Select	ENSP00000370196.2:p.Arg1544Leu
ENST00000348911.10:c.4556G>T	ENSP00000252027.7:p.Arg1519Leu
ENST00000380817.7:c.4631G>T	ENSP00000370196.2:p.Arg1544Leu
ENST00000418590.3:c.231G>T
ENST00000470434.1:n.772G>T
NM_002972.3:c.4631G>T	NP_002963.2:p.Arg1544Leu
XM_005261931.1:c.4634G>T	XP_005261988.1:p.Arg1545Leu
XM_005261935.1:c.4553G>T	XP_005261992.1:p.Arg1518Leu
XM_011530707.1:c.4733G>T	XP_011529009.1:p.Arg1578Leu
XM_011530708.1:c.4685G>T	XP_011529010.1:p.Arg1562Leu
XM_011530709.1:c.4661G>T	XP_011529011.1:p.Arg1554Leu
XM_011530710.1:c.4658G>T	XP_011529012.1:p.Arg1553Leu
XM_011530711.1:c.4658G>T	XP_011529013.1:p.Arg1553Leu
XR_938344.1:n.4751G>T
NM_001365819.1:c.4556G>T	NP_001352748.1:p.Arg1519Leu
XM_005261935.2:c.4553G>T	XP_005261992.1:p.Arg1518Leu
XM_011530709.2:c.4661G>T	XP_011529011.1:p.Arg1554Leu
XM_011530710.2:c.4658G>T	XP_011529012.1:p.Arg1553Leu
XM_017028905.2:c.4583G>T	XP_016884394.1:p.Arg1528Leu
NM_002972.4:c.4631G>T MANE Select	NP_002963.2:p.Arg1544Leu