Canonical Allele Identifier: CA412194591

Gene: SBF1

Linked Data

• dbSNP Id: rs2067195183
• MyVariant Identifiers: chr22:g.50893517G>A (hg19) ; chr22:g.50455088G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4531C>T	ENSP00000252027.8:p.Leu1511Phe
ENST00000418590.4:c.241C>T	ENSP00000401538.2:p.Leu81Phe
ENST00000470434.2:n.1012C>T
ENST00000684986.1:c.4612C>T	ENSP00000509117.1:p.Leu1538Phe
ENST00000685180.1:n.2488+5446C>T
ENST00000685390.1:n.2577C>T
ENST00000685411.1:n.359C>T
ENST00000685592.1:c.843C>T
ENST00000685809.1:c.4522C>T	ENSP00000508863.1:p.Leu1508Phe
ENST00000686029.1:c.687C>T
ENST00000686191.1:n.3809C>T
ENST00000686222.1:c.*4031C>T	ENSP00000508737.1:n.*4031C>T
ENST00000686321.1:c.705C>T
ENST00000686427.1:c.*1544C>T	ENSP00000510379.1:n.*1544C>T
ENST00000686758.1:n.2352C>T
ENST00000686801.1:c.4597C>T	ENSP00000509915.1:p.Leu1533Phe
ENST00000686826.1:n.928C>T
ENST00000687016.1:c.4510C>T	ENSP00000509074.1:p.Leu1504Phe
ENST00000687704.1:c.*2334C>T	ENSP00000510454.1:n.*2334C>T
ENST00000688066.1:c.4609C>T	ENSP00000510782.1:p.Leu1537Phe
ENST00000688124.1:c.*3527C>T	ENSP00000510645.1:n.*3527C>T
ENST00000688848.1:c.*3953C>T	ENSP00000509419.1:n.*3953C>T
ENST00000688985.1:c.1610C>T	ENSP00000510477.1:n.1610C>T
ENST00000689129.1:c.4534C>T	ENSP00000510414.1:p.Leu1512Phe
ENST00000689177.1:n.5881C>T
ENST00000689849.1:c.705C>T
ENST00000689981.1:c.4609C>T	ENSP00000509035.1:p.Leu1537Phe
ENST00000690369.1:n.4627C>T
ENST00000690590.1:n.1656C>T
ENST00000690990.1:c.4603C>T	ENSP00000510461.1:p.Leu1535Phe
ENST00000691233.1:c.4528C>T	ENSP00000509215.1:p.Leu1510Phe
ENST00000691306.1:c.707C>T
ENST00000691345.1:n.2302+1128C>T
ENST00000691792.1:c.4597C>T	ENSP00000509911.1:p.Leu1533Phe
ENST00000691959.1:n.5328C>T
ENST00000692844.1:n.1693C>T
ENST00000692946.1:c.705C>T
ENST00000693052.1:c.4627C>T	ENSP00000509558.1:p.Leu1543Phe
ENST00000693289.1:n.1768C>T
ENST00000693440.1:c.4606C>T	ENSP00000509462.1:p.Leu1536Phe
ENST00000693499.1:n.5534C>T
ENST00000693591.1:n.3346C>T
ENST00000380817.8:c.4609C>T MANE Select	ENSP00000370196.2:p.Leu1537Phe
ENST00000348911.10:c.4534C>T	ENSP00000252027.7:p.Leu1512Phe
ENST00000380817.7:c.4609C>T	ENSP00000370196.2:p.Leu1537Phe
ENST00000418590.3:c.209C>T
ENST00000470434.1:n.750C>T
NM_002972.3:c.4609C>T	NP_002963.2:p.Leu1537Phe
XM_005261931.1:c.4612C>T	XP_005261988.1:p.Leu1538Phe
XM_005261935.1:c.4531C>T	XP_005261992.1:p.Leu1511Phe
XM_011530707.1:c.4711C>T	XP_011529009.1:p.Leu1571Phe
XM_011530708.1:c.4663C>T	XP_011529010.1:p.Leu1555Phe
XM_011530709.1:c.4639C>T	XP_011529011.1:p.Leu1547Phe
XM_011530710.1:c.4636C>T	XP_011529012.1:p.Leu1546Phe
XM_011530711.1:c.4636C>T	XP_011529013.1:p.Leu1546Phe
XR_938344.1:n.4729C>T
NM_001365819.1:c.4534C>T	NP_001352748.1:p.Leu1512Phe
XM_005261935.2:c.4531C>T	XP_005261992.1:p.Leu1511Phe
XM_011530709.2:c.4639C>T	XP_011529011.1:p.Leu1547Phe
XM_011530710.2:c.4636C>T	XP_011529012.1:p.Leu1546Phe
XM_017028905.2:c.4561C>T	XP_016884394.1:p.Leu1521Phe
NM_002972.4:c.4609C>T MANE Select	NP_002963.2:p.Leu1537Phe