Canonical Allele Identifier: CA515382532

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454883-C-T
• MyVariant Identifiers: chr22:g.50893312C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454883C>T , CM000684.2:g.50454883C>T	GRCh38
NC_000022.10:g.50893312C>T , CM000684.1:g.50893312C>T	GRCh37
NC_000022.9:g.49240178C>T	NCBI36
NG_041810.1:g.25189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4665G>A	ENSP00000252027.8:p.Glu1555=
ENST00000418590.4:c.375G>A	ENSP00000401538.2:p.Glu125=
ENST00000470434.2:n.1146G>A
ENST00000684986.1:c.4746G>A	ENSP00000509117.1:p.Glu1582=
ENST00000685180.1:n.2488+5651G>A
ENST00000685390.1:n.2711G>A
ENST00000685411.1:n.493G>A
ENST00000685592.1:c.977G>A
ENST00000685809.1:c.4656G>A	ENSP00000508863.1:p.Glu1552=
ENST00000686029.1:c.821G>A
ENST00000686191.1:n.3943G>A
ENST00000686222.1:c.*4165G>A	ENSP00000508737.1:n.*4165G>A
ENST00000686321.1:c.839G>A
ENST00000686427.1:c.*1678G>A	ENSP00000510379.1:n.*1678G>A
ENST00000686758.1:n.2557G>A
ENST00000686801.1:c.4731G>A	ENSP00000509915.1:p.Glu1577=
ENST00000686826.1:n.1062G>A
ENST00000687016.1:c.4644G>A	ENSP00000509074.1:p.Glu1548=
ENST00000687704.1:c.*2468G>A	ENSP00000510454.1:n.*2468G>A
ENST00000688066.1:c.4743G>A	ENSP00000510782.1:p.Glu1581=
ENST00000688124.1:c.*3661G>A	ENSP00000510645.1:n.*3661G>A
ENST00000688848.1:c.*4087G>A	ENSP00000509419.1:n.*4087G>A
ENST00000688985.1:c.1744G>A	ENSP00000510477.1:n.1744G>A
ENST00000689129.1:c.4668G>A	ENSP00000510414.1:p.Glu1556=
ENST00000689177.1:n.6015G>A
ENST00000689849.1:c.839G>A
ENST00000689981.1:c.4743G>A	ENSP00000509035.1:p.Glu1581=
ENST00000690369.1:n.4761G>A
ENST00000690590.1:n.1790G>A
ENST00000690990.1:c.4737G>A	ENSP00000510461.1:p.Glu1579=
ENST00000691233.1:c.4662G>A	ENSP00000509215.1:p.Glu1554=
ENST00000691306.1:c.824G>A
ENST00000691345.1:n.2302+1333G>A
ENST00000691792.1:c.4731G>A	ENSP00000509911.1:p.Glu1577=
ENST00000691959.1:n.5462G>A
ENST00000692844.1:n.1827G>A
ENST00000692946.1:c.839G>A
ENST00000693052.1:c.4761G>A	ENSP00000509558.1:p.Glu1587=
ENST00000693289.1:n.1902G>A
ENST00000693440.1:c.4740G>A	ENSP00000509462.1:p.Glu1580=
ENST00000693499.1:n.5739G>A
ENST00000693591.1:n.3551G>A
ENST00000380817.8:c.4743G>A MANE Select	ENSP00000370196.2:p.Glu1581=
ENST00000348911.10:c.4668G>A	ENSP00000252027.7:p.Glu1556=
ENST00000380817.7:c.4743G>A	ENSP00000370196.2:p.Glu1581=
ENST00000418590.3:c.343G>A
ENST00000470434.1:n.884G>A
NM_002972.3:c.4743G>A	NP_002963.2:p.Glu1581=
XM_005261931.1:c.4746G>A	XP_005261988.1:p.Glu1582=
XM_005261935.1:c.4665G>A	XP_005261992.1:p.Glu1555=
XM_011530707.1:c.4845G>A	XP_011529009.1:p.Glu1615=
XM_011530708.1:c.4797G>A	XP_011529010.1:p.Glu1599=
XM_011530709.1:c.4773G>A	XP_011529011.1:p.Glu1591=
XM_011530710.1:c.4770G>A	XP_011529012.1:p.Glu1590=
XM_011530711.1:c.4770G>A	XP_011529013.1:p.Glu1590=
XR_938344.1:n.4863G>A
NM_001365819.1:c.4668G>A	NP_001352748.1:p.Glu1556=
XM_005261935.2:c.4665G>A	XP_005261992.1:p.Glu1555=
XM_011530709.2:c.4773G>A	XP_011529011.1:p.Glu1591=
XM_011530710.2:c.4770G>A	XP_011529012.1:p.Glu1590=
XM_017028905.2:c.4695G>A	XP_016884394.1:p.Glu1565=
NM_002972.4:c.4743G>A MANE Select	NP_002963.2:p.Glu1581=