Canonical Allele Identifier: CA412195385

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893553T>G (hg19) ; chr22:g.50455124T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455124T>G , CM000684.2:g.50455124T>G	GRCh38
NC_000022.10:g.50893553T>G , CM000684.1:g.50893553T>G	GRCh37
NC_000022.9:g.49240419T>G	NCBI36
NG_041810.1:g.24948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4495A>C	ENSP00000252027.8:p.Met1499Leu
ENST00000418590.4:c.205A>C	ENSP00000401538.2:p.Met69Leu
ENST00000470434.2:n.976A>C
ENST00000684986.1:c.4576A>C	ENSP00000509117.1:p.Met1526Leu
ENST00000685180.1:n.2488+5410A>C
ENST00000685390.1:n.2541A>C
ENST00000685411.1:n.323A>C
ENST00000685592.1:c.807A>C
ENST00000685809.1:c.4486A>C	ENSP00000508863.1:p.Met1496Leu
ENST00000686029.1:c.651A>C
ENST00000686191.1:n.3773A>C
ENST00000686222.1:c.*3995A>C	ENSP00000508737.1:n.*3995A>C
ENST00000686321.1:c.669A>C
ENST00000686427.1:c.*1508A>C	ENSP00000510379.1:n.*1508A>C
ENST00000686758.1:n.2316A>C
ENST00000686801.1:c.4561A>C	ENSP00000509915.1:p.Met1521Leu
ENST00000686826.1:n.892A>C
ENST00000687016.1:c.4474A>C	ENSP00000509074.1:p.Met1492Leu
ENST00000687704.1:c.*2298A>C	ENSP00000510454.1:n.*2298A>C
ENST00000688066.1:c.4573A>C	ENSP00000510782.1:p.Met1525Leu
ENST00000688124.1:c.*3491A>C	ENSP00000510645.1:n.*3491A>C
ENST00000688848.1:c.*3917A>C	ENSP00000509419.1:n.*3917A>C
ENST00000688985.1:c.1574A>C	ENSP00000510477.1:n.1574A>C
ENST00000689129.1:c.4498A>C	ENSP00000510414.1:p.Met1500Leu
ENST00000689177.1:n.5845A>C
ENST00000689849.1:c.669A>C
ENST00000689981.1:c.4573A>C	ENSP00000509035.1:p.Met1525Leu
ENST00000690369.1:n.4591A>C
ENST00000690590.1:n.1620A>C
ENST00000690990.1:c.4567A>C	ENSP00000510461.1:p.Met1523Leu
ENST00000691233.1:c.4492A>C	ENSP00000509215.1:p.Met1498Leu
ENST00000691306.1:c.671A>C
ENST00000691345.1:n.2302+1092A>C
ENST00000691792.1:c.4561A>C	ENSP00000509911.1:p.Met1521Leu
ENST00000691959.1:n.5292A>C
ENST00000692844.1:n.1657A>C
ENST00000692946.1:c.669A>C
ENST00000693052.1:c.4591A>C	ENSP00000509558.1:p.Met1531Leu
ENST00000693289.1:n.1732A>C
ENST00000693440.1:c.4570A>C	ENSP00000509462.1:p.Met1524Leu
ENST00000693499.1:n.5498A>C
ENST00000693591.1:n.3310A>C
ENST00000380817.8:c.4573A>C MANE Select	ENSP00000370196.2:p.Met1525Leu
ENST00000348911.10:c.4498A>C	ENSP00000252027.7:p.Met1500Leu
ENST00000380817.7:c.4573A>C	ENSP00000370196.2:p.Met1525Leu
ENST00000418590.3:c.173A>C
ENST00000470434.1:n.714A>C
NM_002972.3:c.4573A>C	NP_002963.2:p.Met1525Leu
XM_005261931.1:c.4576A>C	XP_005261988.1:p.Met1526Leu
XM_005261935.1:c.4495A>C	XP_005261992.1:p.Met1499Leu
XM_011530707.1:c.4675A>C	XP_011529009.1:p.Met1559Leu
XM_011530708.1:c.4627A>C	XP_011529010.1:p.Met1543Leu
XM_011530709.1:c.4603A>C	XP_011529011.1:p.Met1535Leu
XM_011530710.1:c.4600A>C	XP_011529012.1:p.Met1534Leu
XM_011530711.1:c.4600A>C	XP_011529013.1:p.Met1534Leu
XR_938344.1:n.4693A>C
NM_001365819.1:c.4498A>C	NP_001352748.1:p.Met1500Leu
XM_005261935.2:c.4495A>C	XP_005261992.1:p.Met1499Leu
XM_011530709.2:c.4603A>C	XP_011529011.1:p.Met1535Leu
XM_011530710.2:c.4600A>C	XP_011529012.1:p.Met1534Leu
XM_017028905.2:c.4525A>C	XP_016884394.1:p.Met1509Leu
NM_002972.4:c.4573A>C MANE Select	NP_002963.2:p.Met1525Leu