Canonical Allele Identifier: CA412194094

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893466C>A (hg19) ; chr22:g.50455037C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4582G>T	ENSP00000252027.8:p.Asp1528Tyr
ENST00000418590.4:c.292G>T	ENSP00000401538.2:p.Asp98Tyr
ENST00000470434.2:n.1063G>T
ENST00000684986.1:c.4663G>T	ENSP00000509117.1:p.Asp1555Tyr
ENST00000685180.1:n.2488+5497G>T
ENST00000685390.1:n.2628G>T
ENST00000685411.1:n.410G>T
ENST00000685592.1:c.894G>T
ENST00000685809.1:c.4573G>T	ENSP00000508863.1:p.Asp1525Tyr
ENST00000686029.1:c.738G>T
ENST00000686191.1:n.3860G>T
ENST00000686222.1:c.*4082G>T	ENSP00000508737.1:n.*4082G>T
ENST00000686321.1:c.756G>T
ENST00000686427.1:c.*1595G>T	ENSP00000510379.1:n.*1595G>T
ENST00000686758.1:n.2403G>T
ENST00000686801.1:c.4648G>T	ENSP00000509915.1:p.Asp1550Tyr
ENST00000686826.1:n.979G>T
ENST00000687016.1:c.4561G>T	ENSP00000509074.1:p.Asp1521Tyr
ENST00000687704.1:c.*2385G>T	ENSP00000510454.1:n.*2385G>T
ENST00000688066.1:c.4660G>T	ENSP00000510782.1:p.Asp1554Tyr
ENST00000688124.1:c.*3578G>T	ENSP00000510645.1:n.*3578G>T
ENST00000688848.1:c.*4004G>T	ENSP00000509419.1:n.*4004G>T
ENST00000688985.1:c.1661G>T	ENSP00000510477.1:n.1661G>T
ENST00000689129.1:c.4585G>T	ENSP00000510414.1:p.Asp1529Tyr
ENST00000689177.1:n.5932G>T
ENST00000689849.1:c.756G>T
ENST00000689981.1:c.4660G>T	ENSP00000509035.1:p.Asp1554Tyr
ENST00000690369.1:n.4678G>T
ENST00000690590.1:n.1707G>T
ENST00000690990.1:c.4654G>T	ENSP00000510461.1:p.Asp1552Tyr
ENST00000691233.1:c.4579G>T	ENSP00000509215.1:p.Asp1527Tyr
ENST00000691306.1:c.758G>T
ENST00000691345.1:n.2302+1179G>T
ENST00000691792.1:c.4648G>T	ENSP00000509911.1:p.Asp1550Tyr
ENST00000691959.1:n.5379G>T
ENST00000692844.1:n.1744G>T
ENST00000692946.1:c.756G>T
ENST00000693052.1:c.4678G>T	ENSP00000509558.1:p.Asp1560Tyr
ENST00000693289.1:n.1819G>T
ENST00000693440.1:c.4657G>T	ENSP00000509462.1:p.Asp1553Tyr
ENST00000693499.1:n.5585G>T
ENST00000693591.1:n.3397G>T
ENST00000380817.8:c.4660G>T MANE Select	ENSP00000370196.2:p.Asp1554Tyr
ENST00000348911.10:c.4585G>T	ENSP00000252027.7:p.Asp1529Tyr
ENST00000380817.7:c.4660G>T	ENSP00000370196.2:p.Asp1554Tyr
ENST00000418590.3:c.260G>T
ENST00000470434.1:n.801G>T
NM_002972.3:c.4660G>T	NP_002963.2:p.Asp1554Tyr
XM_005261931.1:c.4663G>T	XP_005261988.1:p.Asp1555Tyr
XM_005261935.1:c.4582G>T	XP_005261992.1:p.Asp1528Tyr
XM_011530707.1:c.4762G>T	XP_011529009.1:p.Asp1588Tyr
XM_011530708.1:c.4714G>T	XP_011529010.1:p.Asp1572Tyr
XM_011530709.1:c.4690G>T	XP_011529011.1:p.Asp1564Tyr
XM_011530710.1:c.4687G>T	XP_011529012.1:p.Asp1563Tyr
XM_011530711.1:c.4687G>T	XP_011529013.1:p.Asp1563Tyr
XR_938344.1:n.4780G>T
NM_001365819.1:c.4585G>T	NP_001352748.1:p.Asp1529Tyr
XM_005261935.2:c.4582G>T	XP_005261992.1:p.Asp1528Tyr
XM_011530709.2:c.4690G>T	XP_011529011.1:p.Asp1564Tyr
XM_011530710.2:c.4687G>T	XP_011529012.1:p.Asp1563Tyr
XM_017028905.2:c.4612G>T	XP_016884394.1:p.Asp1538Tyr
NM_002972.4:c.4660G>T MANE Select	NP_002963.2:p.Asp1554Tyr