Canonical Allele Identifier: CA412195395

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893557G>T (hg19) ; chr22:g.50455128G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455128G>T , CM000684.2:g.50455128G>T	GRCh38
NC_000022.10:g.50893557G>T , CM000684.1:g.50893557G>T	GRCh37
NC_000022.9:g.49240423G>T	NCBI36
NG_041810.1:g.24944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4491C>A	ENSP00000252027.8:p.Phe1497Leu
ENST00000418590.4:c.201C>A	ENSP00000401538.2:p.Phe67Leu
ENST00000470434.2:n.972C>A
ENST00000684986.1:c.4572C>A	ENSP00000509117.1:p.Phe1524Leu
ENST00000685180.1:n.2488+5406C>A
ENST00000685390.1:n.2537C>A
ENST00000685411.1:n.319C>A
ENST00000685592.1:c.803C>A
ENST00000685809.1:c.4482C>A	ENSP00000508863.1:p.Phe1494Leu
ENST00000686029.1:c.647C>A
ENST00000686191.1:n.3769C>A
ENST00000686222.1:c.*3991C>A	ENSP00000508737.1:n.*3991C>A
ENST00000686321.1:c.665C>A
ENST00000686427.1:c.*1504C>A	ENSP00000510379.1:n.*1504C>A
ENST00000686758.1:n.2312C>A
ENST00000686801.1:c.4557C>A	ENSP00000509915.1:p.Phe1519Leu
ENST00000686826.1:n.888C>A
ENST00000687016.1:c.4470C>A	ENSP00000509074.1:p.Phe1490Leu
ENST00000687704.1:c.*2294C>A	ENSP00000510454.1:n.*2294C>A
ENST00000688066.1:c.4569C>A	ENSP00000510782.1:p.Phe1523Leu
ENST00000688124.1:c.*3487C>A	ENSP00000510645.1:n.*3487C>A
ENST00000688848.1:c.*3913C>A	ENSP00000509419.1:n.*3913C>A
ENST00000688985.1:c.1570C>A	ENSP00000510477.1:n.1570C>A
ENST00000689129.1:c.4494C>A	ENSP00000510414.1:p.Phe1498Leu
ENST00000689177.1:n.5841C>A
ENST00000689849.1:c.665C>A
ENST00000689981.1:c.4569C>A	ENSP00000509035.1:p.Phe1523Leu
ENST00000690369.1:n.4587C>A
ENST00000690590.1:n.1616C>A
ENST00000690990.1:c.4563C>A	ENSP00000510461.1:p.Phe1521Leu
ENST00000691233.1:c.4488C>A	ENSP00000509215.1:p.Phe1496Leu
ENST00000691306.1:c.667C>A
ENST00000691345.1:n.2302+1088C>A
ENST00000691792.1:c.4557C>A	ENSP00000509911.1:p.Phe1519Leu
ENST00000691959.1:n.5288C>A
ENST00000692844.1:n.1653C>A
ENST00000692946.1:c.665C>A
ENST00000693052.1:c.4587C>A	ENSP00000509558.1:p.Phe1529Leu
ENST00000693289.1:n.1728C>A
ENST00000693440.1:c.4566C>A	ENSP00000509462.1:p.Phe1522Leu
ENST00000693499.1:n.5494C>A
ENST00000693591.1:n.3306C>A
ENST00000380817.8:c.4569C>A MANE Select	ENSP00000370196.2:p.Phe1523Leu
ENST00000348911.10:c.4494C>A	ENSP00000252027.7:p.Phe1498Leu
ENST00000380817.7:c.4569C>A	ENSP00000370196.2:p.Phe1523Leu
ENST00000418590.3:c.169C>A
ENST00000470434.1:n.710C>A
NM_002972.3:c.4569C>A	NP_002963.2:p.Phe1523Leu
XM_005261931.1:c.4572C>A	XP_005261988.1:p.Phe1524Leu
XM_005261935.1:c.4491C>A	XP_005261992.1:p.Phe1497Leu
XM_011530707.1:c.4671C>A	XP_011529009.1:p.Phe1557Leu
XM_011530708.1:c.4623C>A	XP_011529010.1:p.Phe1541Leu
XM_011530709.1:c.4599C>A	XP_011529011.1:p.Phe1533Leu
XM_011530710.1:c.4596C>A	XP_011529012.1:p.Phe1532Leu
XM_011530711.1:c.4596C>A	XP_011529013.1:p.Phe1532Leu
XR_938344.1:n.4689C>A
NM_001365819.1:c.4494C>A	NP_001352748.1:p.Phe1498Leu
XM_005261935.2:c.4491C>A	XP_005261992.1:p.Phe1497Leu
XM_011530709.2:c.4599C>A	XP_011529011.1:p.Phe1533Leu
XM_011530710.2:c.4596C>A	XP_011529012.1:p.Phe1532Leu
XM_017028905.2:c.4521C>A	XP_016884394.1:p.Phe1507Leu
NM_002972.4:c.4569C>A MANE Select	NP_002963.2:p.Phe1523Leu