Canonical Allele Identifier: CA412194593

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455088-G-C
• MyVariant Identifiers: chr22:g.50893517G>C (hg19) ; chr22:g.50455088G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455088G>C , CM000684.2:g.50455088G>C	GRCh38
NC_000022.10:g.50893517G>C , CM000684.1:g.50893517G>C	GRCh37
NC_000022.9:g.49240383G>C	NCBI36
NG_041810.1:g.24984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4531C>G	ENSP00000252027.8:p.Leu1511Val
ENST00000418590.4:c.241C>G	ENSP00000401538.2:p.Leu81Val
ENST00000470434.2:n.1012C>G
ENST00000684986.1:c.4612C>G	ENSP00000509117.1:p.Leu1538Val
ENST00000685180.1:n.2488+5446C>G
ENST00000685390.1:n.2577C>G
ENST00000685411.1:n.359C>G
ENST00000685592.1:c.843C>G
ENST00000685809.1:c.4522C>G	ENSP00000508863.1:p.Leu1508Val
ENST00000686029.1:c.687C>G
ENST00000686191.1:n.3809C>G
ENST00000686222.1:c.*4031C>G	ENSP00000508737.1:n.*4031C>G
ENST00000686321.1:c.705C>G
ENST00000686427.1:c.*1544C>G	ENSP00000510379.1:n.*1544C>G
ENST00000686758.1:n.2352C>G
ENST00000686801.1:c.4597C>G	ENSP00000509915.1:p.Leu1533Val
ENST00000686826.1:n.928C>G
ENST00000687016.1:c.4510C>G	ENSP00000509074.1:p.Leu1504Val
ENST00000687704.1:c.*2334C>G	ENSP00000510454.1:n.*2334C>G
ENST00000688066.1:c.4609C>G	ENSP00000510782.1:p.Leu1537Val
ENST00000688124.1:c.*3527C>G	ENSP00000510645.1:n.*3527C>G
ENST00000688848.1:c.*3953C>G	ENSP00000509419.1:n.*3953C>G
ENST00000688985.1:c.1610C>G	ENSP00000510477.1:n.1610C>G
ENST00000689129.1:c.4534C>G	ENSP00000510414.1:p.Leu1512Val
ENST00000689177.1:n.5881C>G
ENST00000689849.1:c.705C>G
ENST00000689981.1:c.4609C>G	ENSP00000509035.1:p.Leu1537Val
ENST00000690369.1:n.4627C>G
ENST00000690590.1:n.1656C>G
ENST00000690990.1:c.4603C>G	ENSP00000510461.1:p.Leu1535Val
ENST00000691233.1:c.4528C>G	ENSP00000509215.1:p.Leu1510Val
ENST00000691306.1:c.707C>G
ENST00000691345.1:n.2302+1128C>G
ENST00000691792.1:c.4597C>G	ENSP00000509911.1:p.Leu1533Val
ENST00000691959.1:n.5328C>G
ENST00000692844.1:n.1693C>G
ENST00000692946.1:c.705C>G
ENST00000693052.1:c.4627C>G	ENSP00000509558.1:p.Leu1543Val
ENST00000693289.1:n.1768C>G
ENST00000693440.1:c.4606C>G	ENSP00000509462.1:p.Leu1536Val
ENST00000693499.1:n.5534C>G
ENST00000693591.1:n.3346C>G
ENST00000380817.8:c.4609C>G MANE Select	ENSP00000370196.2:p.Leu1537Val
ENST00000348911.10:c.4534C>G	ENSP00000252027.7:p.Leu1512Val
ENST00000380817.7:c.4609C>G	ENSP00000370196.2:p.Leu1537Val
ENST00000418590.3:c.209C>G
ENST00000470434.1:n.750C>G
NM_002972.3:c.4609C>G	NP_002963.2:p.Leu1537Val
XM_005261931.1:c.4612C>G	XP_005261988.1:p.Leu1538Val
XM_005261935.1:c.4531C>G	XP_005261992.1:p.Leu1511Val
XM_011530707.1:c.4711C>G	XP_011529009.1:p.Leu1571Val
XM_011530708.1:c.4663C>G	XP_011529010.1:p.Leu1555Val
XM_011530709.1:c.4639C>G	XP_011529011.1:p.Leu1547Val
XM_011530710.1:c.4636C>G	XP_011529012.1:p.Leu1546Val
XM_011530711.1:c.4636C>G	XP_011529013.1:p.Leu1546Val
XR_938344.1:n.4729C>G
NM_001365819.1:c.4534C>G	NP_001352748.1:p.Leu1512Val
XM_005261935.2:c.4531C>G	XP_005261992.1:p.Leu1511Val
XM_011530709.2:c.4639C>G	XP_011529011.1:p.Leu1547Val
XM_011530710.2:c.4636C>G	XP_011529012.1:p.Leu1546Val
XM_017028905.2:c.4561C>G	XP_016884394.1:p.Leu1521Val
NM_002972.4:c.4609C>G MANE Select	NP_002963.2:p.Leu1537Val