Canonical Allele Identifier: CA412195325

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893537C>T (hg19) ; chr22:g.50455108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455108C>T , CM000684.2:g.50455108C>T	GRCh38
NC_000022.10:g.50893537C>T , CM000684.1:g.50893537C>T	GRCh37
NC_000022.9:g.49240403C>T	NCBI36
NG_041810.1:g.24964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4511G>A	ENSP00000252027.8:p.Ser1504Asn
ENST00000418590.4:c.221G>A	ENSP00000401538.2:p.Ser74Asn
ENST00000470434.2:n.992G>A
ENST00000684986.1:c.4592G>A	ENSP00000509117.1:p.Ser1531Asn
ENST00000685180.1:n.2488+5426G>A
ENST00000685390.1:n.2557G>A
ENST00000685411.1:n.339G>A
ENST00000685592.1:c.823G>A
ENST00000685809.1:c.4502G>A	ENSP00000508863.1:p.Ser1501Asn
ENST00000686029.1:c.667G>A
ENST00000686191.1:n.3789G>A
ENST00000686222.1:c.*4011G>A	ENSP00000508737.1:n.*4011G>A
ENST00000686321.1:c.685G>A
ENST00000686427.1:c.*1524G>A	ENSP00000510379.1:n.*1524G>A
ENST00000686758.1:n.2332G>A
ENST00000686801.1:c.4577G>A	ENSP00000509915.1:p.Ser1526Asn
ENST00000686826.1:n.908G>A
ENST00000687016.1:c.4490G>A	ENSP00000509074.1:p.Ser1497Asn
ENST00000687704.1:c.*2314G>A	ENSP00000510454.1:n.*2314G>A
ENST00000688066.1:c.4589G>A	ENSP00000510782.1:p.Ser1530Asn
ENST00000688124.1:c.*3507G>A	ENSP00000510645.1:n.*3507G>A
ENST00000688848.1:c.*3933G>A	ENSP00000509419.1:n.*3933G>A
ENST00000688985.1:c.1590G>A	ENSP00000510477.1:n.1590G>A
ENST00000689129.1:c.4514G>A	ENSP00000510414.1:p.Ser1505Asn
ENST00000689177.1:n.5861G>A
ENST00000689849.1:c.685G>A
ENST00000689981.1:c.4589G>A	ENSP00000509035.1:p.Ser1530Asn
ENST00000690369.1:n.4607G>A
ENST00000690590.1:n.1636G>A
ENST00000690990.1:c.4583G>A	ENSP00000510461.1:p.Ser1528Asn
ENST00000691233.1:c.4508G>A	ENSP00000509215.1:p.Ser1503Asn
ENST00000691306.1:c.687G>A
ENST00000691345.1:n.2302+1108G>A
ENST00000691792.1:c.4577G>A	ENSP00000509911.1:p.Ser1526Asn
ENST00000691959.1:n.5308G>A
ENST00000692844.1:n.1673G>A
ENST00000692946.1:c.685G>A
ENST00000693052.1:c.4607G>A	ENSP00000509558.1:p.Ser1536Asn
ENST00000693289.1:n.1748G>A
ENST00000693440.1:c.4586G>A	ENSP00000509462.1:p.Ser1529Asn
ENST00000693499.1:n.5514G>A
ENST00000693591.1:n.3326G>A
ENST00000380817.8:c.4589G>A MANE Select	ENSP00000370196.2:p.Ser1530Asn
ENST00000348911.10:c.4514G>A	ENSP00000252027.7:p.Ser1505Asn
ENST00000380817.7:c.4589G>A	ENSP00000370196.2:p.Ser1530Asn
ENST00000418590.3:c.189G>A
ENST00000470434.1:n.730G>A
NM_002972.3:c.4589G>A	NP_002963.2:p.Ser1530Asn
XM_005261931.1:c.4592G>A	XP_005261988.1:p.Ser1531Asn
XM_005261935.1:c.4511G>A	XP_005261992.1:p.Ser1504Asn
XM_011530707.1:c.4691G>A	XP_011529009.1:p.Ser1564Asn
XM_011530708.1:c.4643G>A	XP_011529010.1:p.Ser1548Asn
XM_011530709.1:c.4619G>A	XP_011529011.1:p.Ser1540Asn
XM_011530710.1:c.4616G>A	XP_011529012.1:p.Ser1539Asn
XM_011530711.1:c.4616G>A	XP_011529013.1:p.Ser1539Asn
XR_938344.1:n.4709G>A
NM_001365819.1:c.4514G>A	NP_001352748.1:p.Ser1505Asn
XM_005261935.2:c.4511G>A	XP_005261992.1:p.Ser1504Asn
XM_011530709.2:c.4619G>A	XP_011529011.1:p.Ser1540Asn
XM_011530710.2:c.4616G>A	XP_011529012.1:p.Ser1539Asn
XM_017028905.2:c.4541G>A	XP_016884394.1:p.Ser1514Asn
NM_002972.4:c.4589G>A MANE Select	NP_002963.2:p.Ser1530Asn