Canonical Allele Identifier: CA515382549

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893318C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454889C>G , CM000684.2:g.50454889C>G	GRCh38
NC_000022.10:g.50893318C>G , CM000684.1:g.50893318C>G	GRCh37
NC_000022.9:g.49240184C>G	NCBI36
NG_041810.1:g.25183G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4659G>C	ENSP00000252027.8:p.Val1553=
ENST00000418590.4:c.369G>C	ENSP00000401538.2:p.Val123=
ENST00000470434.2:n.1140G>C
ENST00000684986.1:c.4740G>C	ENSP00000509117.1:p.Val1580=
ENST00000685180.1:n.2488+5645G>C
ENST00000685390.1:n.2705G>C
ENST00000685411.1:n.487G>C
ENST00000685592.1:c.971G>C
ENST00000685809.1:c.4650G>C	ENSP00000508863.1:p.Val1550=
ENST00000686029.1:c.815G>C
ENST00000686191.1:n.3937G>C
ENST00000686222.1:c.*4159G>C	ENSP00000508737.1:n.*4159G>C
ENST00000686321.1:c.833G>C
ENST00000686427.1:c.*1672G>C	ENSP00000510379.1:n.*1672G>C
ENST00000686758.1:n.2551G>C
ENST00000686801.1:c.4725G>C	ENSP00000509915.1:p.Val1575=
ENST00000686826.1:n.1056G>C
ENST00000687016.1:c.4638G>C	ENSP00000509074.1:p.Val1546=
ENST00000687704.1:c.*2462G>C	ENSP00000510454.1:n.*2462G>C
ENST00000688066.1:c.4737G>C	ENSP00000510782.1:p.Val1579=
ENST00000688124.1:c.*3655G>C	ENSP00000510645.1:n.*3655G>C
ENST00000688848.1:c.*4081G>C	ENSP00000509419.1:n.*4081G>C
ENST00000688985.1:c.1738G>C	ENSP00000510477.1:n.1738G>C
ENST00000689129.1:c.4662G>C	ENSP00000510414.1:p.Val1554=
ENST00000689177.1:n.6009G>C
ENST00000689849.1:c.833G>C
ENST00000689981.1:c.4737G>C	ENSP00000509035.1:p.Val1579=
ENST00000690369.1:n.4755G>C
ENST00000690590.1:n.1784G>C
ENST00000690990.1:c.4731G>C	ENSP00000510461.1:p.Val1577=
ENST00000691233.1:c.4656G>C	ENSP00000509215.1:p.Val1552=
ENST00000691306.1:c.818G>C
ENST00000691345.1:n.2302+1327G>C
ENST00000691792.1:c.4725G>C	ENSP00000509911.1:p.Val1575=
ENST00000691959.1:n.5456G>C
ENST00000692844.1:n.1821G>C
ENST00000692946.1:c.833G>C
ENST00000693052.1:c.4755G>C	ENSP00000509558.1:p.Val1585=
ENST00000693289.1:n.1896G>C
ENST00000693440.1:c.4734G>C	ENSP00000509462.1:p.Val1578=
ENST00000693499.1:n.5733G>C
ENST00000693591.1:n.3545G>C
ENST00000380817.8:c.4737G>C MANE Select	ENSP00000370196.2:p.Val1579=
ENST00000348911.10:c.4662G>C	ENSP00000252027.7:p.Val1554=
ENST00000380817.7:c.4737G>C	ENSP00000370196.2:p.Val1579=
ENST00000418590.3:c.337G>C
ENST00000470434.1:n.878G>C
NM_002972.3:c.4737G>C	NP_002963.2:p.Val1579=
XM_005261931.1:c.4740G>C	XP_005261988.1:p.Val1580=
XM_005261935.1:c.4659G>C	XP_005261992.1:p.Val1553=
XM_011530707.1:c.4839G>C	XP_011529009.1:p.Val1613=
XM_011530708.1:c.4791G>C	XP_011529010.1:p.Val1597=
XM_011530709.1:c.4767G>C	XP_011529011.1:p.Val1589=
XM_011530710.1:c.4764G>C	XP_011529012.1:p.Val1588=
XM_011530711.1:c.4764G>C	XP_011529013.1:p.Val1588=
XR_938344.1:n.4857G>C
NM_001365819.1:c.4662G>C	NP_001352748.1:p.Val1554=
XM_005261935.2:c.4659G>C	XP_005261992.1:p.Val1553=
XM_011530709.2:c.4767G>C	XP_011529011.1:p.Val1589=
XM_011530710.2:c.4764G>C	XP_011529012.1:p.Val1588=
XM_017028905.2:c.4689G>C	XP_016884394.1:p.Val1563=
NM_002972.4:c.4737G>C MANE Select	NP_002963.2:p.Val1579=