Canonical Allele Identifier: CA515384747

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50466609C>T , CM000684.2:g.50466609C>T	GRCh38
NC_000022.10:g.50905038C>T , CM000684.1:g.50905038C>T	GRCh37
NC_000022.9:g.49251904C>T	NCBI36
NG_041810.1:g.13463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.651G>A	ENSP00000252027.8:p.Gln217=
ENST00000399627.4:n.755G>A
ENST00000684986.1:c.654G>A	ENSP00000509117.1:p.Gln218=
ENST00000685180.1:n.487+729G>A
ENST00000685809.1:c.645G>A	ENSP00000508863.1:p.Gln215=
ENST00000685960.1:n.336G>A
ENST00000686222.1:c.*76G>A	ENSP00000508737.1:n.*76G>A
ENST00000686421.1:c.107-127G>A
ENST00000686427.1:c.651G>A	ENSP00000510379.1:p.Gln217=
ENST00000686801.1:c.642G>A	ENSP00000509915.1:p.Gln214=
ENST00000687016.1:c.645G>A	ENSP00000509074.1:p.Gln215=
ENST00000687704.1:c.651G>A	ENSP00000510454.1:p.Gln217=
ENST00000687878.1:c.208G>A
ENST00000688066.1:c.642G>A	ENSP00000510782.1:p.Gln214=
ENST00000688124.1:c.651G>A	ENSP00000510645.1:p.Gln217=
ENST00000688848.1:c.*76G>A	ENSP00000509419.1:n.*76G>A
ENST00000689129.1:c.654G>A	ENSP00000510414.1:p.Gln218=
ENST00000689981.1:c.651G>A	ENSP00000509035.1:p.Gln217=
ENST00000690369.1:n.597G>A
ENST00000690990.1:c.645G>A	ENSP00000510461.1:p.Gln215=
ENST00000691233.1:c.651G>A	ENSP00000509215.1:p.Gln217=
ENST00000691344.1:c.*170G>A	ENSP00000509009.1:n.*170G>A
ENST00000691792.1:c.651G>A	ENSP00000509911.1:p.Gln217=
ENST00000691959.1:n.80G>A
ENST00000692076.1:c.396G>A	ENSP00000510301.1:p.Gln132=
ENST00000693052.1:c.651G>A	ENSP00000509558.1:p.Gln217=
ENST00000693440.1:c.651G>A	ENSP00000509462.1:p.Gln217=
ENST00000380817.8:c.651G>A MANE Select	ENSP00000370196.2:p.Gln217=
ENST00000348911.10:c.654G>A	ENSP00000252027.7:p.Gln218=
ENST00000380817.7:c.651G>A	ENSP00000370196.2:p.Gln217=
ENST00000399627.3:n.755G>A
ENST00000477234.1:n.747G>A
NM_002972.3:c.651G>A	NP_002963.2:p.Gln217=
XM_005261931.1:c.654G>A	XP_005261988.1:p.Gln218=
XM_005261935.1:c.651G>A	XP_005261992.1:p.Gln217=
XM_011530707.1:c.753G>A	XP_011529009.1:p.Gln251=
XM_011530708.1:c.705G>A	XP_011529010.1:p.Gln235=
XM_011530709.1:c.681G>A	XP_011529011.1:p.Gln227=
XM_011530710.1:c.678G>A	XP_011529012.1:p.Gln226=
XM_011530711.1:c.756G>A	XP_011529013.1:p.Gln252=
XR_938344.1:n.771G>A
NM_001365819.1:c.654G>A	NP_001352748.1:p.Gln218=
XM_005261935.2:c.651G>A	XP_005261992.1:p.Gln217=
XM_011530709.2:c.681G>A	XP_011529011.1:p.Gln227=
XM_011530710.2:c.678G>A	XP_011529012.1:p.Gln226=
XM_017028905.2:c.681G>A	XP_016884394.1:p.Gln227=
NM_002972.4:c.651G>A MANE Select	NP_002963.2:p.Gln217=