Canonical Allele Identifier: CA325528072

Gene: SBF1

Linked Data

• dbSNP Id: rs868036929
• gnomAD v4: 22-50455049-G-C
• MyVariant Identifiers: chr22:g.50893478G>C (hg19) ; chr22:g.50455049G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455049G>C , CM000684.2:g.50455049G>C	GRCh38
NC_000022.10:g.50893478G>C , CM000684.1:g.50893478G>C	GRCh37
NC_000022.9:g.49240344G>C	NCBI36
NG_041810.1:g.25023C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4570C>G	ENSP00000252027.8:p.Leu1524Val
ENST00000418590.4:c.280C>G	ENSP00000401538.2:p.Leu94Val
ENST00000470434.2:n.1051C>G
ENST00000684986.1:c.4651C>G	ENSP00000509117.1:p.Leu1551Val
ENST00000685180.1:n.2488+5485C>G
ENST00000685390.1:n.2616C>G
ENST00000685411.1:n.398C>G
ENST00000685592.1:c.882C>G
ENST00000685809.1:c.4561C>G	ENSP00000508863.1:p.Leu1521Val
ENST00000686029.1:c.726C>G
ENST00000686191.1:n.3848C>G
ENST00000686222.1:c.*4070C>G	ENSP00000508737.1:n.*4070C>G
ENST00000686321.1:c.744C>G
ENST00000686427.1:c.*1583C>G	ENSP00000510379.1:n.*1583C>G
ENST00000686758.1:n.2391C>G
ENST00000686801.1:c.4636C>G	ENSP00000509915.1:p.Leu1546Val
ENST00000686826.1:n.967C>G
ENST00000687016.1:c.4549C>G	ENSP00000509074.1:p.Leu1517Val
ENST00000687704.1:c.*2373C>G	ENSP00000510454.1:n.*2373C>G
ENST00000688066.1:c.4648C>G	ENSP00000510782.1:p.Leu1550Val
ENST00000688124.1:c.*3566C>G	ENSP00000510645.1:n.*3566C>G
ENST00000688848.1:c.*3992C>G	ENSP00000509419.1:n.*3992C>G
ENST00000688985.1:c.1649C>G	ENSP00000510477.1:n.1649C>G
ENST00000689129.1:c.4573C>G	ENSP00000510414.1:p.Leu1525Val
ENST00000689177.1:n.5920C>G
ENST00000689849.1:c.744C>G
ENST00000689981.1:c.4648C>G	ENSP00000509035.1:p.Leu1550Val
ENST00000690369.1:n.4666C>G
ENST00000690590.1:n.1695C>G
ENST00000690990.1:c.4642C>G	ENSP00000510461.1:p.Leu1548Val
ENST00000691233.1:c.4567C>G	ENSP00000509215.1:p.Leu1523Val
ENST00000691306.1:c.746C>G
ENST00000691345.1:n.2302+1167C>G
ENST00000691792.1:c.4636C>G	ENSP00000509911.1:p.Leu1546Val
ENST00000691959.1:n.5367C>G
ENST00000692844.1:n.1732C>G
ENST00000692946.1:c.744C>G
ENST00000693052.1:c.4666C>G	ENSP00000509558.1:p.Leu1556Val
ENST00000693289.1:n.1807C>G
ENST00000693440.1:c.4645C>G	ENSP00000509462.1:p.Leu1549Val
ENST00000693499.1:n.5573C>G
ENST00000693591.1:n.3385C>G
ENST00000380817.8:c.4648C>G MANE Select	ENSP00000370196.2:p.Leu1550Val
ENST00000348911.10:c.4573C>G	ENSP00000252027.7:p.Leu1525Val
ENST00000380817.7:c.4648C>G	ENSP00000370196.2:p.Leu1550Val
ENST00000418590.3:c.248C>G
ENST00000470434.1:n.789C>G
NM_002972.3:c.4648C>G	NP_002963.2:p.Leu1550Val
XM_005261931.1:c.4651C>G	XP_005261988.1:p.Leu1551Val
XM_005261935.1:c.4570C>G	XP_005261992.1:p.Leu1524Val
XM_011530707.1:c.4750C>G	XP_011529009.1:p.Leu1584Val
XM_011530708.1:c.4702C>G	XP_011529010.1:p.Leu1568Val
XM_011530709.1:c.4678C>G	XP_011529011.1:p.Leu1560Val
XM_011530710.1:c.4675C>G	XP_011529012.1:p.Leu1559Val
XM_011530711.1:c.4675C>G	XP_011529013.1:p.Leu1559Val
XR_938344.1:n.4768C>G
NM_001365819.1:c.4573C>G	NP_001352748.1:p.Leu1525Val
XM_005261935.2:c.4570C>G	XP_005261992.1:p.Leu1524Val
XM_011530709.2:c.4678C>G	XP_011529011.1:p.Leu1560Val
XM_011530710.2:c.4675C>G	XP_011529012.1:p.Leu1559Val
XM_017028905.2:c.4600C>G	XP_016884394.1:p.Leu1534Val
NM_002972.4:c.4648C>G MANE Select	NP_002963.2:p.Leu1550Val