Canonical Allele Identifier: CA412195319

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455107-G-C
• MyVariant Identifiers: chr22:g.50893536G>C (hg19) ; chr22:g.50455107G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455107G>C , CM000684.2:g.50455107G>C	GRCh38
NC_000022.10:g.50893536G>C , CM000684.1:g.50893536G>C	GRCh37
NC_000022.9:g.49240402G>C	NCBI36
NG_041810.1:g.24965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4512C>G	ENSP00000252027.8:p.Ser1504Arg
ENST00000418590.4:c.222C>G	ENSP00000401538.2:p.Ser74Arg
ENST00000470434.2:n.993C>G
ENST00000684986.1:c.4593C>G	ENSP00000509117.1:p.Ser1531Arg
ENST00000685180.1:n.2488+5427C>G
ENST00000685390.1:n.2558C>G
ENST00000685411.1:n.340C>G
ENST00000685592.1:c.824C>G
ENST00000685809.1:c.4503C>G	ENSP00000508863.1:p.Ser1501Arg
ENST00000686029.1:c.668C>G
ENST00000686191.1:n.3790C>G
ENST00000686222.1:c.*4012C>G	ENSP00000508737.1:n.*4012C>G
ENST00000686321.1:c.686C>G
ENST00000686427.1:c.*1525C>G	ENSP00000510379.1:n.*1525C>G
ENST00000686758.1:n.2333C>G
ENST00000686801.1:c.4578C>G	ENSP00000509915.1:p.Ser1526Arg
ENST00000686826.1:n.909C>G
ENST00000687016.1:c.4491C>G	ENSP00000509074.1:p.Ser1497Arg
ENST00000687704.1:c.*2315C>G	ENSP00000510454.1:n.*2315C>G
ENST00000688066.1:c.4590C>G	ENSP00000510782.1:p.Ser1530Arg
ENST00000688124.1:c.*3508C>G	ENSP00000510645.1:n.*3508C>G
ENST00000688848.1:c.*3934C>G	ENSP00000509419.1:n.*3934C>G
ENST00000688985.1:c.1591C>G	ENSP00000510477.1:n.1591C>G
ENST00000689129.1:c.4515C>G	ENSP00000510414.1:p.Ser1505Arg
ENST00000689177.1:n.5862C>G
ENST00000689849.1:c.686C>G
ENST00000689981.1:c.4590C>G	ENSP00000509035.1:p.Ser1530Arg
ENST00000690369.1:n.4608C>G
ENST00000690590.1:n.1637C>G
ENST00000690990.1:c.4584C>G	ENSP00000510461.1:p.Ser1528Arg
ENST00000691233.1:c.4509C>G	ENSP00000509215.1:p.Ser1503Arg
ENST00000691306.1:c.688C>G
ENST00000691345.1:n.2302+1109C>G
ENST00000691792.1:c.4578C>G	ENSP00000509911.1:p.Ser1526Arg
ENST00000691959.1:n.5309C>G
ENST00000692844.1:n.1674C>G
ENST00000692946.1:c.686C>G
ENST00000693052.1:c.4608C>G	ENSP00000509558.1:p.Ser1536Arg
ENST00000693289.1:n.1749C>G
ENST00000693440.1:c.4587C>G	ENSP00000509462.1:p.Ser1529Arg
ENST00000693499.1:n.5515C>G
ENST00000693591.1:n.3327C>G
ENST00000380817.8:c.4590C>G MANE Select	ENSP00000370196.2:p.Ser1530Arg
ENST00000348911.10:c.4515C>G	ENSP00000252027.7:p.Ser1505Arg
ENST00000380817.7:c.4590C>G	ENSP00000370196.2:p.Ser1530Arg
ENST00000418590.3:c.190C>G
ENST00000470434.1:n.731C>G
NM_002972.3:c.4590C>G	NP_002963.2:p.Ser1530Arg
XM_005261931.1:c.4593C>G	XP_005261988.1:p.Ser1531Arg
XM_005261935.1:c.4512C>G	XP_005261992.1:p.Ser1504Arg
XM_011530707.1:c.4692C>G	XP_011529009.1:p.Ser1564Arg
XM_011530708.1:c.4644C>G	XP_011529010.1:p.Ser1548Arg
XM_011530709.1:c.4620C>G	XP_011529011.1:p.Ser1540Arg
XM_011530710.1:c.4617C>G	XP_011529012.1:p.Ser1539Arg
XM_011530711.1:c.4617C>G	XP_011529013.1:p.Ser1539Arg
XR_938344.1:n.4710C>G
NM_001365819.1:c.4515C>G	NP_001352748.1:p.Ser1505Arg
XM_005261935.2:c.4512C>G	XP_005261992.1:p.Ser1504Arg
XM_011530709.2:c.4620C>G	XP_011529011.1:p.Ser1540Arg
XM_011530710.2:c.4617C>G	XP_011529012.1:p.Ser1539Arg
XM_017028905.2:c.4542C>G	XP_016884394.1:p.Ser1514Arg
NM_002972.4:c.4590C>G MANE Select	NP_002963.2:p.Ser1530Arg