Canonical Allele Identifier: CA515382524

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893306C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454877C>A , CM000684.2:g.50454877C>A	GRCh38
NC_000022.10:g.50893306C>A , CM000684.1:g.50893306C>A	GRCh37
NC_000022.9:g.49240172C>A	NCBI36
NG_041810.1:g.25195G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4671G>T	ENSP00000252027.8:p.Val1557=
ENST00000418590.4:c.381G>T	ENSP00000401538.2:p.Val127=
ENST00000470434.2:n.1152G>T
ENST00000684986.1:c.4752G>T	ENSP00000509117.1:p.Val1584=
ENST00000685180.1:n.2488+5657G>T
ENST00000685390.1:n.2717G>T
ENST00000685411.1:n.499G>T
ENST00000685592.1:c.983G>T
ENST00000685809.1:c.4662G>T	ENSP00000508863.1:p.Val1554=
ENST00000686029.1:c.827G>T
ENST00000686191.1:n.3949G>T
ENST00000686222.1:c.*4171G>T	ENSP00000508737.1:n.*4171G>T
ENST00000686321.1:c.845G>T
ENST00000686427.1:c.*1684G>T	ENSP00000510379.1:n.*1684G>T
ENST00000686758.1:n.2563G>T
ENST00000686801.1:c.4737G>T	ENSP00000509915.1:p.Val1579=
ENST00000686826.1:n.1068G>T
ENST00000687016.1:c.4650G>T	ENSP00000509074.1:p.Val1550=
ENST00000687704.1:c.*2474G>T	ENSP00000510454.1:n.*2474G>T
ENST00000688066.1:c.4749G>T	ENSP00000510782.1:p.Val1583=
ENST00000688124.1:c.*3667G>T	ENSP00000510645.1:n.*3667G>T
ENST00000688848.1:c.*4093G>T	ENSP00000509419.1:n.*4093G>T
ENST00000688985.1:c.1750G>T	ENSP00000510477.1:n.1750G>T
ENST00000689129.1:c.4674G>T	ENSP00000510414.1:p.Val1558=
ENST00000689177.1:n.6021G>T
ENST00000689849.1:c.845G>T
ENST00000689981.1:c.4749G>T	ENSP00000509035.1:p.Val1583=
ENST00000690369.1:n.4767G>T
ENST00000690590.1:n.1796G>T
ENST00000690990.1:c.4743G>T	ENSP00000510461.1:p.Val1581=
ENST00000691233.1:c.4668G>T	ENSP00000509215.1:p.Val1556=
ENST00000691306.1:c.830G>T
ENST00000691345.1:n.2302+1339G>T
ENST00000691792.1:c.4737G>T	ENSP00000509911.1:p.Val1579=
ENST00000691959.1:n.5468G>T
ENST00000692844.1:n.1833G>T
ENST00000692946.1:c.845G>T
ENST00000693052.1:c.4767G>T	ENSP00000509558.1:p.Val1589=
ENST00000693289.1:n.1908G>T
ENST00000693440.1:c.4746G>T	ENSP00000509462.1:p.Val1582=
ENST00000693499.1:n.5745G>T
ENST00000693591.1:n.3557G>T
ENST00000380817.8:c.4749G>T MANE Select	ENSP00000370196.2:p.Val1583=
ENST00000348911.10:c.4674G>T	ENSP00000252027.7:p.Val1558=
ENST00000380817.7:c.4749G>T	ENSP00000370196.2:p.Val1583=
ENST00000418590.3:c.349G>T
ENST00000470434.1:n.890G>T
NM_002972.3:c.4749G>T	NP_002963.2:p.Val1583=
XM_005261931.1:c.4752G>T	XP_005261988.1:p.Val1584=
XM_005261935.1:c.4671G>T	XP_005261992.1:p.Val1557=
XM_011530707.1:c.4851G>T	XP_011529009.1:p.Val1617=
XM_011530708.1:c.4803G>T	XP_011529010.1:p.Val1601=
XM_011530709.1:c.4779G>T	XP_011529011.1:p.Val1593=
XM_011530710.1:c.4776G>T	XP_011529012.1:p.Val1592=
XM_011530711.1:c.4776G>T	XP_011529013.1:p.Val1592=
XR_938344.1:n.4869G>T
NM_001365819.1:c.4674G>T	NP_001352748.1:p.Val1558=
XM_005261935.2:c.4671G>T	XP_005261992.1:p.Val1557=
XM_011530709.2:c.4779G>T	XP_011529011.1:p.Val1593=
XM_011530710.2:c.4776G>T	XP_011529012.1:p.Val1592=
XM_017028905.2:c.4701G>T	XP_016884394.1:p.Val1567=
NM_002972.4:c.4749G>T MANE Select	NP_002963.2:p.Val1583=