Canonical Allele Identifier: CA412195322

Gene: SBF1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4511G>T	ENSP00000252027.8:p.Ser1504Ile
ENST00000418590.4:c.221G>T	ENSP00000401538.2:p.Ser74Ile
ENST00000470434.2:n.992G>T
ENST00000684986.1:c.4592G>T	ENSP00000509117.1:p.Ser1531Ile
ENST00000685180.1:n.2488+5426G>T
ENST00000685390.1:n.2557G>T
ENST00000685411.1:n.339G>T
ENST00000685592.1:c.823G>T
ENST00000685809.1:c.4502G>T	ENSP00000508863.1:p.Ser1501Ile
ENST00000686029.1:c.667G>T
ENST00000686191.1:n.3789G>T
ENST00000686222.1:c.*4011G>T	ENSP00000508737.1:n.*4011G>T
ENST00000686321.1:c.685G>T
ENST00000686427.1:c.*1524G>T	ENSP00000510379.1:n.*1524G>T
ENST00000686758.1:n.2332G>T
ENST00000686801.1:c.4577G>T	ENSP00000509915.1:p.Ser1526Ile
ENST00000686826.1:n.908G>T
ENST00000687016.1:c.4490G>T	ENSP00000509074.1:p.Ser1497Ile
ENST00000687704.1:c.*2314G>T	ENSP00000510454.1:n.*2314G>T
ENST00000688066.1:c.4589G>T	ENSP00000510782.1:p.Ser1530Ile
ENST00000688124.1:c.*3507G>T	ENSP00000510645.1:n.*3507G>T
ENST00000688848.1:c.*3933G>T	ENSP00000509419.1:n.*3933G>T
ENST00000688985.1:c.1590G>T	ENSP00000510477.1:n.1590G>T
ENST00000689129.1:c.4514G>T	ENSP00000510414.1:p.Ser1505Ile
ENST00000689177.1:n.5861G>T
ENST00000689849.1:c.685G>T
ENST00000689981.1:c.4589G>T	ENSP00000509035.1:p.Ser1530Ile
ENST00000690369.1:n.4607G>T
ENST00000690590.1:n.1636G>T
ENST00000690990.1:c.4583G>T	ENSP00000510461.1:p.Ser1528Ile
ENST00000691233.1:c.4508G>T	ENSP00000509215.1:p.Ser1503Ile
ENST00000691306.1:c.687G>T
ENST00000691345.1:n.2302+1108G>T
ENST00000691792.1:c.4577G>T	ENSP00000509911.1:p.Ser1526Ile
ENST00000691959.1:n.5308G>T
ENST00000692844.1:n.1673G>T
ENST00000692946.1:c.685G>T
ENST00000693052.1:c.4607G>T	ENSP00000509558.1:p.Ser1536Ile
ENST00000693289.1:n.1748G>T
ENST00000693440.1:c.4586G>T	ENSP00000509462.1:p.Ser1529Ile
ENST00000693499.1:n.5514G>T
ENST00000693591.1:n.3326G>T
ENST00000380817.8:c.4589G>T MANE Select	ENSP00000370196.2:p.Ser1530Ile
ENST00000348911.10:c.4514G>T	ENSP00000252027.7:p.Ser1505Ile
ENST00000380817.7:c.4589G>T	ENSP00000370196.2:p.Ser1530Ile
ENST00000418590.3:c.189G>T
ENST00000470434.1:n.730G>T
NM_002972.3:c.4589G>T	NP_002963.2:p.Ser1530Ile
XM_005261931.1:c.4592G>T	XP_005261988.1:p.Ser1531Ile
XM_005261935.1:c.4511G>T	XP_005261992.1:p.Ser1504Ile
XM_011530707.1:c.4691G>T	XP_011529009.1:p.Ser1564Ile
XM_011530708.1:c.4643G>T	XP_011529010.1:p.Ser1548Ile
XM_011530709.1:c.4619G>T	XP_011529011.1:p.Ser1540Ile
XM_011530710.1:c.4616G>T	XP_011529012.1:p.Ser1539Ile
XM_011530711.1:c.4616G>T	XP_011529013.1:p.Ser1539Ile
XR_938344.1:n.4709G>T
NM_001365819.1:c.4514G>T	NP_001352748.1:p.Ser1505Ile
XM_005261935.2:c.4511G>T	XP_005261992.1:p.Ser1504Ile
XM_011530709.2:c.4619G>T	XP_011529011.1:p.Ser1540Ile
XM_011530710.2:c.4616G>T	XP_011529012.1:p.Ser1539Ile
XM_017028905.2:c.4541G>T	XP_016884394.1:p.Ser1514Ile
NM_002972.4:c.4589G>T MANE Select	NP_002963.2:p.Ser1530Ile