Canonical Allele Identifier: CA412194562

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893513C>G (hg19) ; chr22:g.50455084C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455084C>G , CM000684.2:g.50455084C>G	GRCh38
NC_000022.10:g.50893513C>G , CM000684.1:g.50893513C>G	GRCh37
NC_000022.9:g.49240379C>G	NCBI36
NG_041810.1:g.24988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4535G>C	ENSP00000252027.8:p.Gly1512Ala
ENST00000418590.4:c.245G>C	ENSP00000401538.2:p.Gly82Ala
ENST00000470434.2:n.1016G>C
ENST00000684986.1:c.4616G>C	ENSP00000509117.1:p.Gly1539Ala
ENST00000685180.1:n.2488+5450G>C
ENST00000685390.1:n.2581G>C
ENST00000685411.1:n.363G>C
ENST00000685592.1:c.847G>C
ENST00000685809.1:c.4526G>C	ENSP00000508863.1:p.Gly1509Ala
ENST00000686029.1:c.691G>C
ENST00000686191.1:n.3813G>C
ENST00000686222.1:c.*4035G>C	ENSP00000508737.1:n.*4035G>C
ENST00000686321.1:c.709G>C
ENST00000686427.1:c.*1548G>C	ENSP00000510379.1:n.*1548G>C
ENST00000686758.1:n.2356G>C
ENST00000686801.1:c.4601G>C	ENSP00000509915.1:p.Gly1534Ala
ENST00000686826.1:n.932G>C
ENST00000687016.1:c.4514G>C	ENSP00000509074.1:p.Gly1505Ala
ENST00000687704.1:c.*2338G>C	ENSP00000510454.1:n.*2338G>C
ENST00000688066.1:c.4613G>C	ENSP00000510782.1:p.Gly1538Ala
ENST00000688124.1:c.*3531G>C	ENSP00000510645.1:n.*3531G>C
ENST00000688848.1:c.*3957G>C	ENSP00000509419.1:n.*3957G>C
ENST00000688985.1:c.1614G>C	ENSP00000510477.1:n.1614G>C
ENST00000689129.1:c.4538G>C	ENSP00000510414.1:p.Gly1513Ala
ENST00000689177.1:n.5885G>C
ENST00000689849.1:c.709G>C
ENST00000689981.1:c.4613G>C	ENSP00000509035.1:p.Gly1538Ala
ENST00000690369.1:n.4631G>C
ENST00000690590.1:n.1660G>C
ENST00000690990.1:c.4607G>C	ENSP00000510461.1:p.Gly1536Ala
ENST00000691233.1:c.4532G>C	ENSP00000509215.1:p.Gly1511Ala
ENST00000691306.1:c.711G>C
ENST00000691345.1:n.2302+1132G>C
ENST00000691792.1:c.4601G>C	ENSP00000509911.1:p.Gly1534Ala
ENST00000691959.1:n.5332G>C
ENST00000692844.1:n.1697G>C
ENST00000692946.1:c.709G>C
ENST00000693052.1:c.4631G>C	ENSP00000509558.1:p.Gly1544Ala
ENST00000693289.1:n.1772G>C
ENST00000693440.1:c.4610G>C	ENSP00000509462.1:p.Gly1537Ala
ENST00000693499.1:n.5538G>C
ENST00000693591.1:n.3350G>C
ENST00000380817.8:c.4613G>C MANE Select	ENSP00000370196.2:p.Gly1538Ala
ENST00000348911.10:c.4538G>C	ENSP00000252027.7:p.Gly1513Ala
ENST00000380817.7:c.4613G>C	ENSP00000370196.2:p.Gly1538Ala
ENST00000418590.3:c.213G>C
ENST00000470434.1:n.754G>C
NM_002972.3:c.4613G>C	NP_002963.2:p.Gly1538Ala
XM_005261931.1:c.4616G>C	XP_005261988.1:p.Gly1539Ala
XM_005261935.1:c.4535G>C	XP_005261992.1:p.Gly1512Ala
XM_011530707.1:c.4715G>C	XP_011529009.1:p.Gly1572Ala
XM_011530708.1:c.4667G>C	XP_011529010.1:p.Gly1556Ala
XM_011530709.1:c.4643G>C	XP_011529011.1:p.Gly1548Ala
XM_011530710.1:c.4640G>C	XP_011529012.1:p.Gly1547Ala
XM_011530711.1:c.4640G>C	XP_011529013.1:p.Gly1547Ala
XR_938344.1:n.4733G>C
NM_001365819.1:c.4538G>C	NP_001352748.1:p.Gly1513Ala
XM_005261935.2:c.4535G>C	XP_005261992.1:p.Gly1512Ala
XM_011530709.2:c.4643G>C	XP_011529011.1:p.Gly1548Ala
XM_011530710.2:c.4640G>C	XP_011529012.1:p.Gly1547Ala
XM_017028905.2:c.4565G>C	XP_016884394.1:p.Gly1522Ala
NM_002972.4:c.4613G>C MANE Select	NP_002963.2:p.Gly1538Ala