Canonical Allele Identifier: CA515382749

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893446C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455017C>G , CM000684.2:g.50455017C>G	GRCh38
NC_000022.10:g.50893446C>G , CM000684.1:g.50893446C>G	GRCh37
NC_000022.9:g.49240312C>G	NCBI36
NG_041810.1:g.25055G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4602G>C	ENSP00000252027.8:p.Leu1534=
ENST00000418590.4:c.312G>C	ENSP00000401538.2:p.Leu104=
ENST00000470434.2:n.1083G>C
ENST00000684986.1:c.4683G>C	ENSP00000509117.1:p.Leu1561=
ENST00000685180.1:n.2488+5517G>C
ENST00000685390.1:n.2648G>C
ENST00000685411.1:n.430G>C
ENST00000685592.1:c.914G>C
ENST00000685809.1:c.4593G>C	ENSP00000508863.1:p.Leu1531=
ENST00000686029.1:c.758G>C
ENST00000686191.1:n.3880G>C
ENST00000686222.1:c.*4102G>C	ENSP00000508737.1:n.*4102G>C
ENST00000686321.1:c.776G>C
ENST00000686427.1:c.*1615G>C	ENSP00000510379.1:n.*1615G>C
ENST00000686758.1:n.2423G>C
ENST00000686801.1:c.4668G>C	ENSP00000509915.1:p.Leu1556=
ENST00000686826.1:n.999G>C
ENST00000687016.1:c.4581G>C	ENSP00000509074.1:p.Leu1527=
ENST00000687704.1:c.*2405G>C	ENSP00000510454.1:n.*2405G>C
ENST00000688066.1:c.4680G>C	ENSP00000510782.1:p.Leu1560=
ENST00000688124.1:c.*3598G>C	ENSP00000510645.1:n.*3598G>C
ENST00000688848.1:c.*4024G>C	ENSP00000509419.1:n.*4024G>C
ENST00000688985.1:c.1681G>C	ENSP00000510477.1:n.1681G>C
ENST00000689129.1:c.4605G>C	ENSP00000510414.1:p.Leu1535=
ENST00000689177.1:n.5952G>C
ENST00000689849.1:c.776G>C
ENST00000689981.1:c.4680G>C	ENSP00000509035.1:p.Leu1560=
ENST00000690369.1:n.4698G>C
ENST00000690590.1:n.1727G>C
ENST00000690990.1:c.4674G>C	ENSP00000510461.1:p.Leu1558=
ENST00000691233.1:c.4599G>C	ENSP00000509215.1:p.Leu1533=
ENST00000691306.1:c.778G>C
ENST00000691345.1:n.2302+1199G>C
ENST00000691792.1:c.4668G>C	ENSP00000509911.1:p.Leu1556=
ENST00000691959.1:n.5399G>C
ENST00000692844.1:n.1764G>C
ENST00000692946.1:c.776G>C
ENST00000693052.1:c.4698G>C	ENSP00000509558.1:p.Leu1566=
ENST00000693289.1:n.1839G>C
ENST00000693440.1:c.4677G>C	ENSP00000509462.1:p.Leu1559=
ENST00000693499.1:n.5605G>C
ENST00000693591.1:n.3417G>C
ENST00000380817.8:c.4680G>C MANE Select	ENSP00000370196.2:p.Leu1560=
ENST00000348911.10:c.4605G>C	ENSP00000252027.7:p.Leu1535=
ENST00000380817.7:c.4680G>C	ENSP00000370196.2:p.Leu1560=
ENST00000418590.3:c.280G>C
ENST00000470434.1:n.821G>C
NM_002972.3:c.4680G>C	NP_002963.2:p.Leu1560=
XM_005261931.1:c.4683G>C	XP_005261988.1:p.Leu1561=
XM_005261935.1:c.4602G>C	XP_005261992.1:p.Leu1534=
XM_011530707.1:c.4782G>C	XP_011529009.1:p.Leu1594=
XM_011530708.1:c.4734G>C	XP_011529010.1:p.Leu1578=
XM_011530709.1:c.4710G>C	XP_011529011.1:p.Leu1570=
XM_011530710.1:c.4707G>C	XP_011529012.1:p.Leu1569=
XM_011530711.1:c.4707G>C	XP_011529013.1:p.Leu1569=
XR_938344.1:n.4800G>C
NM_001365819.1:c.4605G>C	NP_001352748.1:p.Leu1535=
XM_005261935.2:c.4602G>C	XP_005261992.1:p.Leu1534=
XM_011530709.2:c.4710G>C	XP_011529011.1:p.Leu1570=
XM_011530710.2:c.4707G>C	XP_011529012.1:p.Leu1569=
XM_017028905.2:c.4632G>C	XP_016884394.1:p.Leu1544=
NM_002972.4:c.4680G>C MANE Select	NP_002963.2:p.Leu1560=