Canonical Allele Identifier: CA412194087

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455037-C-T
• MyVariant Identifiers: chr22:g.50893466C>T (hg19) ; chr22:g.50455037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455037C>T , CM000684.2:g.50455037C>T	GRCh38
NC_000022.10:g.50893466C>T , CM000684.1:g.50893466C>T	GRCh37
NC_000022.9:g.49240332C>T	NCBI36
NG_041810.1:g.25035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4582G>A	ENSP00000252027.8:p.Asp1528Asn
ENST00000418590.4:c.292G>A	ENSP00000401538.2:p.Asp98Asn
ENST00000470434.2:n.1063G>A
ENST00000684986.1:c.4663G>A	ENSP00000509117.1:p.Asp1555Asn
ENST00000685180.1:n.2488+5497G>A
ENST00000685390.1:n.2628G>A
ENST00000685411.1:n.410G>A
ENST00000685592.1:c.894G>A
ENST00000685809.1:c.4573G>A	ENSP00000508863.1:p.Asp1525Asn
ENST00000686029.1:c.738G>A
ENST00000686191.1:n.3860G>A
ENST00000686222.1:c.*4082G>A	ENSP00000508737.1:n.*4082G>A
ENST00000686321.1:c.756G>A
ENST00000686427.1:c.*1595G>A	ENSP00000510379.1:n.*1595G>A
ENST00000686758.1:n.2403G>A
ENST00000686801.1:c.4648G>A	ENSP00000509915.1:p.Asp1550Asn
ENST00000686826.1:n.979G>A
ENST00000687016.1:c.4561G>A	ENSP00000509074.1:p.Asp1521Asn
ENST00000687704.1:c.*2385G>A	ENSP00000510454.1:n.*2385G>A
ENST00000688066.1:c.4660G>A	ENSP00000510782.1:p.Asp1554Asn
ENST00000688124.1:c.*3578G>A	ENSP00000510645.1:n.*3578G>A
ENST00000688848.1:c.*4004G>A	ENSP00000509419.1:n.*4004G>A
ENST00000688985.1:c.1661G>A	ENSP00000510477.1:n.1661G>A
ENST00000689129.1:c.4585G>A	ENSP00000510414.1:p.Asp1529Asn
ENST00000689177.1:n.5932G>A
ENST00000689849.1:c.756G>A
ENST00000689981.1:c.4660G>A	ENSP00000509035.1:p.Asp1554Asn
ENST00000690369.1:n.4678G>A
ENST00000690590.1:n.1707G>A
ENST00000690990.1:c.4654G>A	ENSP00000510461.1:p.Asp1552Asn
ENST00000691233.1:c.4579G>A	ENSP00000509215.1:p.Asp1527Asn
ENST00000691306.1:c.758G>A
ENST00000691345.1:n.2302+1179G>A
ENST00000691792.1:c.4648G>A	ENSP00000509911.1:p.Asp1550Asn
ENST00000691959.1:n.5379G>A
ENST00000692844.1:n.1744G>A
ENST00000692946.1:c.756G>A
ENST00000693052.1:c.4678G>A	ENSP00000509558.1:p.Asp1560Asn
ENST00000693289.1:n.1819G>A
ENST00000693440.1:c.4657G>A	ENSP00000509462.1:p.Asp1553Asn
ENST00000693499.1:n.5585G>A
ENST00000693591.1:n.3397G>A
ENST00000380817.8:c.4660G>A MANE Select	ENSP00000370196.2:p.Asp1554Asn
ENST00000348911.10:c.4585G>A	ENSP00000252027.7:p.Asp1529Asn
ENST00000380817.7:c.4660G>A	ENSP00000370196.2:p.Asp1554Asn
ENST00000418590.3:c.260G>A
ENST00000470434.1:n.801G>A
NM_002972.3:c.4660G>A	NP_002963.2:p.Asp1554Asn
XM_005261931.1:c.4663G>A	XP_005261988.1:p.Asp1555Asn
XM_005261935.1:c.4582G>A	XP_005261992.1:p.Asp1528Asn
XM_011530707.1:c.4762G>A	XP_011529009.1:p.Asp1588Asn
XM_011530708.1:c.4714G>A	XP_011529010.1:p.Asp1572Asn
XM_011530709.1:c.4690G>A	XP_011529011.1:p.Asp1564Asn
XM_011530710.1:c.4687G>A	XP_011529012.1:p.Asp1563Asn
XM_011530711.1:c.4687G>A	XP_011529013.1:p.Asp1563Asn
XR_938344.1:n.4780G>A
NM_001365819.1:c.4585G>A	NP_001352748.1:p.Asp1529Asn
XM_005261935.2:c.4582G>A	XP_005261992.1:p.Asp1528Asn
XM_011530709.2:c.4690G>A	XP_011529011.1:p.Asp1564Asn
XM_011530710.2:c.4687G>A	XP_011529012.1:p.Asp1563Asn
XM_017028905.2:c.4612G>A	XP_016884394.1:p.Asp1538Asn
NM_002972.4:c.4660G>A MANE Select	NP_002963.2:p.Asp1554Asn