Canonical Allele Identifier: CA174971

Gene: SBF1

Linked Data

• ClinVar Variation Id: 162096
• ClinVar RCV Id: RCV000149508 ; RCV000162103
• dbSNP Id: rs690016543
• gnomAD v4: 22-50465006-C-T
• MyVariant Identifiers: chr22:g.50903435C>T (hg19) ; chr22:g.50465006C>T (hg38)
• PubMed: PMID:21210780 ; PMID:24799518 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50465006C>T , CM000684.2:g.50465006C>T	GRCh38
NC_000022.10:g.50903435C>T , CM000684.1:g.50903435C>T	GRCh37
NC_000022.9:g.49250301C>T	NCBI36
NG_041810.1:g.15066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.1327G>A	ENSP00000252027.8:p.Asp443Asn
ENST00000684986.1:c.1330G>A	ENSP00000509117.1:p.Asp444Asn
ENST00000685180.1:n.488-268G>A
ENST00000685239.1:c.234G>A	ENSP00000509640.1:n.234G>A
ENST00000685809.1:c.1321G>A	ENSP00000508863.1:p.Asp441Asn
ENST00000686222.1:c.*752G>A	ENSP00000508737.1:n.*752G>A
ENST00000686427.1:c.1327G>A	ENSP00000510379.1:p.Asp443Asn
ENST00000686801.1:c.1318G>A	ENSP00000509915.1:p.Asp440Asn
ENST00000687016.1:c.1321G>A	ENSP00000509074.1:p.Asp441Asn
ENST00000687704.1:c.1327G>A	ENSP00000510454.1:p.Asp443Asn
ENST00000688066.1:c.1330G>A	ENSP00000510782.1:p.Asp444Asn
ENST00000688124.1:c.*321G>A	ENSP00000510645.1:n.*321G>A
ENST00000688848.1:c.*752G>A	ENSP00000509419.1:n.*752G>A
ENST00000689129.1:c.1330G>A	ENSP00000510414.1:p.Asp444Asn
ENST00000689981.1:c.1327G>A	ENSP00000509035.1:p.Asp443Asn
ENST00000690369.1:n.1348G>A
ENST00000690990.1:c.1321G>A	ENSP00000510461.1:p.Asp441Asn
ENST00000691233.1:c.1327G>A	ENSP00000509215.1:p.Asp443Asn
ENST00000691792.1:c.1327G>A	ENSP00000509911.1:p.Asp443Asn
ENST00000691959.1:n.969G>A
ENST00000693052.1:c.1327G>A	ENSP00000509558.1:p.Asp443Asn
ENST00000693440.1:c.1327G>A	ENSP00000509462.1:p.Asp443Asn
ENST00000693499.1:n.76G>A
ENST00000693675.1:n.707G>A
ENST00000380817.8:c.1327G>A MANE Select	ENSP00000370196.2:p.Asp443Asn
ENST00000348911.10:c.1330G>A	ENSP00000252027.7:p.Asp444Asn
ENST00000380817.7:c.1327G>A	ENSP00000370196.2:p.Asp443Asn
NM_002972.3:c.1327G>A	NP_002963.2:p.Asp443Asn
XM_005261931.1:c.1330G>A	XP_005261988.1:p.Asp444Asn
XM_005261935.1:c.1327G>A	XP_005261992.1:p.Asp443Asn
XM_011530707.1:c.1429G>A	XP_011529009.1:p.Asp477Asn
XM_011530708.1:c.1381G>A	XP_011529010.1:p.Asp461Asn
XM_011530709.1:c.1357G>A	XP_011529011.1:p.Asp453Asn
XM_011530710.1:c.1354G>A	XP_011529012.1:p.Asp452Asn
XM_011530711.1:c.1432G>A	XP_011529013.1:p.Asp478Asn
XR_938344.1:n.1447G>A
NM_001365819.1:c.1330G>A	NP_001352748.1:p.Asp444Asn
XM_005261935.2:c.1327G>A	XP_005261992.1:p.Asp443Asn
XM_011530709.2:c.1357G>A	XP_011529011.1:p.Asp453Asn
XM_011530710.2:c.1354G>A	XP_011529012.1:p.Asp452Asn
XM_017028905.2:c.1357G>A	XP_016884394.1:p.Asp453Asn
NM_002972.4:c.1327G>A MANE Select	NP_002963.2:p.Asp443Asn