Canonical Allele Identifier: CA412194034

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893458C>G (hg19) ; chr22:g.50455029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455029C>G , CM000684.2:g.50455029C>G	GRCh38
NC_000022.10:g.50893458C>G , CM000684.1:g.50893458C>G	GRCh37
NC_000022.9:g.49240324C>G	NCBI36
NG_041810.1:g.25043G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4590G>C	ENSP00000252027.8:p.Glu1530Asp
ENST00000418590.4:c.300G>C	ENSP00000401538.2:p.Glu100Asp
ENST00000470434.2:n.1071G>C
ENST00000684986.1:c.4671G>C	ENSP00000509117.1:p.Glu1557Asp
ENST00000685180.1:n.2488+5505G>C
ENST00000685390.1:n.2636G>C
ENST00000685411.1:n.418G>C
ENST00000685592.1:c.902G>C
ENST00000685809.1:c.4581G>C	ENSP00000508863.1:p.Glu1527Asp
ENST00000686029.1:c.746G>C
ENST00000686191.1:n.3868G>C
ENST00000686222.1:c.*4090G>C	ENSP00000508737.1:n.*4090G>C
ENST00000686321.1:c.764G>C
ENST00000686427.1:c.*1603G>C	ENSP00000510379.1:n.*1603G>C
ENST00000686758.1:n.2411G>C
ENST00000686801.1:c.4656G>C	ENSP00000509915.1:p.Glu1552Asp
ENST00000686826.1:n.987G>C
ENST00000687016.1:c.4569G>C	ENSP00000509074.1:p.Glu1523Asp
ENST00000687704.1:c.*2393G>C	ENSP00000510454.1:n.*2393G>C
ENST00000688066.1:c.4668G>C	ENSP00000510782.1:p.Glu1556Asp
ENST00000688124.1:c.*3586G>C	ENSP00000510645.1:n.*3586G>C
ENST00000688848.1:c.*4012G>C	ENSP00000509419.1:n.*4012G>C
ENST00000688985.1:c.1669G>C	ENSP00000510477.1:n.1669G>C
ENST00000689129.1:c.4593G>C	ENSP00000510414.1:p.Glu1531Asp
ENST00000689177.1:n.5940G>C
ENST00000689849.1:c.764G>C
ENST00000689981.1:c.4668G>C	ENSP00000509035.1:p.Glu1556Asp
ENST00000690369.1:n.4686G>C
ENST00000690590.1:n.1715G>C
ENST00000690990.1:c.4662G>C	ENSP00000510461.1:p.Glu1554Asp
ENST00000691233.1:c.4587G>C	ENSP00000509215.1:p.Glu1529Asp
ENST00000691306.1:c.766G>C
ENST00000691345.1:n.2302+1187G>C
ENST00000691792.1:c.4656G>C	ENSP00000509911.1:p.Glu1552Asp
ENST00000691959.1:n.5387G>C
ENST00000692844.1:n.1752G>C
ENST00000692946.1:c.764G>C
ENST00000693052.1:c.4686G>C	ENSP00000509558.1:p.Glu1562Asp
ENST00000693289.1:n.1827G>C
ENST00000693440.1:c.4665G>C	ENSP00000509462.1:p.Glu1555Asp
ENST00000693499.1:n.5593G>C
ENST00000693591.1:n.3405G>C
ENST00000380817.8:c.4668G>C MANE Select	ENSP00000370196.2:p.Glu1556Asp
ENST00000348911.10:c.4593G>C	ENSP00000252027.7:p.Glu1531Asp
ENST00000380817.7:c.4668G>C	ENSP00000370196.2:p.Glu1556Asp
ENST00000418590.3:c.268G>C
ENST00000470434.1:n.809G>C
NM_002972.3:c.4668G>C	NP_002963.2:p.Glu1556Asp
XM_005261931.1:c.4671G>C	XP_005261988.1:p.Glu1557Asp
XM_005261935.1:c.4590G>C	XP_005261992.1:p.Glu1530Asp
XM_011530707.1:c.4770G>C	XP_011529009.1:p.Glu1590Asp
XM_011530708.1:c.4722G>C	XP_011529010.1:p.Glu1574Asp
XM_011530709.1:c.4698G>C	XP_011529011.1:p.Glu1566Asp
XM_011530710.1:c.4695G>C	XP_011529012.1:p.Glu1565Asp
XM_011530711.1:c.4695G>C	XP_011529013.1:p.Glu1565Asp
XR_938344.1:n.4788G>C
NM_001365819.1:c.4593G>C	NP_001352748.1:p.Glu1531Asp
XM_005261935.2:c.4590G>C	XP_005261992.1:p.Glu1530Asp
XM_011530709.2:c.4698G>C	XP_011529011.1:p.Glu1566Asp
XM_011530710.2:c.4695G>C	XP_011529012.1:p.Glu1565Asp
XM_017028905.2:c.4620G>C	XP_016884394.1:p.Glu1540Asp
NM_002972.4:c.4668G>C MANE Select	NP_002963.2:p.Glu1556Asp