Canonical Allele Identifier: CA412193495

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893338G>C (hg19) ; chr22:g.50454909G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454909G>C , CM000684.2:g.50454909G>C	GRCh38
NC_000022.10:g.50893338G>C , CM000684.1:g.50893338G>C	GRCh37
NC_000022.9:g.49240204G>C	NCBI36
NG_041810.1:g.25163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4639C>G	ENSP00000252027.8:p.Gln1547Glu
ENST00000418590.4:c.349C>G	ENSP00000401538.2:p.Gln117Glu
ENST00000470434.2:n.1120C>G
ENST00000684986.1:c.4720C>G	ENSP00000509117.1:p.Gln1574Glu
ENST00000685180.1:n.2488+5625C>G
ENST00000685390.1:n.2685C>G
ENST00000685411.1:n.467C>G
ENST00000685592.1:c.951C>G
ENST00000685809.1:c.4630C>G	ENSP00000508863.1:p.Gln1544Glu
ENST00000686029.1:c.795C>G
ENST00000686191.1:n.3917C>G
ENST00000686222.1:c.*4139C>G	ENSP00000508737.1:n.*4139C>G
ENST00000686321.1:c.813C>G
ENST00000686427.1:c.*1652C>G	ENSP00000510379.1:n.*1652C>G
ENST00000686758.1:n.2531C>G
ENST00000686801.1:c.4705C>G	ENSP00000509915.1:p.Gln1569Glu
ENST00000686826.1:n.1036C>G
ENST00000687016.1:c.4618C>G	ENSP00000509074.1:p.Gln1540Glu
ENST00000687704.1:c.*2442C>G	ENSP00000510454.1:n.*2442C>G
ENST00000688066.1:c.4717C>G	ENSP00000510782.1:p.Gln1573Glu
ENST00000688124.1:c.*3635C>G	ENSP00000510645.1:n.*3635C>G
ENST00000688848.1:c.*4061C>G	ENSP00000509419.1:n.*4061C>G
ENST00000688985.1:c.1718C>G	ENSP00000510477.1:n.1718C>G
ENST00000689129.1:c.4642C>G	ENSP00000510414.1:p.Gln1548Glu
ENST00000689177.1:n.5989C>G
ENST00000689849.1:c.813C>G
ENST00000689981.1:c.4717C>G	ENSP00000509035.1:p.Gln1573Glu
ENST00000690369.1:n.4735C>G
ENST00000690590.1:n.1764C>G
ENST00000690990.1:c.4711C>G	ENSP00000510461.1:p.Gln1571Glu
ENST00000691233.1:c.4636C>G	ENSP00000509215.1:p.Gln1546Glu
ENST00000691306.1:c.798C>G
ENST00000691345.1:n.2302+1307C>G
ENST00000691792.1:c.4705C>G	ENSP00000509911.1:p.Gln1569Glu
ENST00000691959.1:n.5436C>G
ENST00000692844.1:n.1801C>G
ENST00000692946.1:c.813C>G
ENST00000693052.1:c.4735C>G	ENSP00000509558.1:p.Gln1579Glu
ENST00000693289.1:n.1876C>G
ENST00000693440.1:c.4714C>G	ENSP00000509462.1:p.Gln1572Glu
ENST00000693499.1:n.5713C>G
ENST00000693591.1:n.3525C>G
ENST00000380817.8:c.4717C>G MANE Select	ENSP00000370196.2:p.Gln1573Glu
ENST00000348911.10:c.4642C>G	ENSP00000252027.7:p.Gln1548Glu
ENST00000380817.7:c.4717C>G	ENSP00000370196.2:p.Gln1573Glu
ENST00000418590.3:c.317C>G
ENST00000470434.1:n.858C>G
NM_002972.3:c.4717C>G	NP_002963.2:p.Gln1573Glu
XM_005261931.1:c.4720C>G	XP_005261988.1:p.Gln1574Glu
XM_005261935.1:c.4639C>G	XP_005261992.1:p.Gln1547Glu
XM_011530707.1:c.4819C>G	XP_011529009.1:p.Gln1607Glu
XM_011530708.1:c.4771C>G	XP_011529010.1:p.Gln1591Glu
XM_011530709.1:c.4747C>G	XP_011529011.1:p.Gln1583Glu
XM_011530710.1:c.4744C>G	XP_011529012.1:p.Gln1582Glu
XM_011530711.1:c.4744C>G	XP_011529013.1:p.Gln1582Glu
XR_938344.1:n.4837C>G
NM_001365819.1:c.4642C>G	NP_001352748.1:p.Gln1548Glu
XM_005261935.2:c.4639C>G	XP_005261992.1:p.Gln1547Glu
XM_011530709.2:c.4747C>G	XP_011529011.1:p.Gln1583Glu
XM_011530710.2:c.4744C>G	XP_011529012.1:p.Gln1582Glu
XM_017028905.2:c.4669C>G	XP_016884394.1:p.Gln1557Glu
NM_002972.4:c.4717C>G MANE Select	NP_002963.2:p.Gln1573Glu