Canonical Allele Identifier: CA412195427

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893565G>C (hg19) ; chr22:g.50455136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455136G>C , CM000684.2:g.50455136G>C	GRCh38
NC_000022.10:g.50893565G>C , CM000684.1:g.50893565G>C	GRCh37
NC_000022.9:g.49240431G>C	NCBI36
NG_041810.1:g.24936C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4483C>G	ENSP00000252027.8:p.Leu1495Val
ENST00000418590.4:c.193C>G	ENSP00000401538.2:p.Leu65Val
ENST00000470434.2:n.964C>G
ENST00000684986.1:c.4564C>G	ENSP00000509117.1:p.Leu1522Val
ENST00000685180.1:n.2488+5398C>G
ENST00000685390.1:n.2529C>G
ENST00000685411.1:n.311C>G
ENST00000685592.1:c.795C>G
ENST00000685809.1:c.4474C>G	ENSP00000508863.1:p.Leu1492Val
ENST00000686029.1:c.639C>G
ENST00000686191.1:n.3761C>G
ENST00000686222.1:c.*3983C>G	ENSP00000508737.1:n.*3983C>G
ENST00000686321.1:c.657C>G
ENST00000686427.1:c.*1496C>G	ENSP00000510379.1:n.*1496C>G
ENST00000686758.1:n.2304C>G
ENST00000686801.1:c.4549C>G	ENSP00000509915.1:p.Leu1517Val
ENST00000686826.1:n.880C>G
ENST00000687016.1:c.4462C>G	ENSP00000509074.1:p.Leu1488Val
ENST00000687704.1:c.*2286C>G	ENSP00000510454.1:n.*2286C>G
ENST00000688066.1:c.4561C>G	ENSP00000510782.1:p.Leu1521Val
ENST00000688124.1:c.*3479C>G	ENSP00000510645.1:n.*3479C>G
ENST00000688848.1:c.*3905C>G	ENSP00000509419.1:n.*3905C>G
ENST00000688985.1:c.1562C>G	ENSP00000510477.1:n.1562C>G
ENST00000689129.1:c.4486C>G	ENSP00000510414.1:p.Leu1496Val
ENST00000689177.1:n.5833C>G
ENST00000689849.1:c.657C>G
ENST00000689981.1:c.4561C>G	ENSP00000509035.1:p.Leu1521Val
ENST00000690369.1:n.4579C>G
ENST00000690590.1:n.1608C>G
ENST00000690990.1:c.4555C>G	ENSP00000510461.1:p.Leu1519Val
ENST00000691233.1:c.4480C>G	ENSP00000509215.1:p.Leu1494Val
ENST00000691306.1:c.659C>G
ENST00000691345.1:n.2302+1080C>G
ENST00000691792.1:c.4555-6C>G	ENSP00000509911.1:n.4555-6C>G
ENST00000691959.1:n.5280C>G
ENST00000692844.1:n.1645C>G
ENST00000692946.1:c.657C>G
ENST00000693052.1:c.4579C>G	ENSP00000509558.1:p.Leu1527Val
ENST00000693289.1:n.1720C>G
ENST00000693440.1:c.4558C>G	ENSP00000509462.1:p.Leu1520Val
ENST00000693499.1:n.5486C>G
ENST00000693591.1:n.3298C>G
ENST00000380817.8:c.4561C>G MANE Select	ENSP00000370196.2:p.Leu1521Val
ENST00000348911.10:c.4486C>G	ENSP00000252027.7:p.Leu1496Val
ENST00000380817.7:c.4561C>G	ENSP00000370196.2:p.Leu1521Val
ENST00000418590.3:c.161C>G
ENST00000470434.1:n.702C>G
NM_002972.3:c.4561C>G	NP_002963.2:p.Leu1521Val
XM_005261931.1:c.4564C>G	XP_005261988.1:p.Leu1522Val
XM_005261935.1:c.4483C>G	XP_005261992.1:p.Leu1495Val
XM_011530707.1:c.4663C>G	XP_011529009.1:p.Leu1555Val
XM_011530708.1:c.4615C>G	XP_011529010.1:p.Leu1539Val
XM_011530709.1:c.4591C>G	XP_011529011.1:p.Leu1531Val
XM_011530710.1:c.4588C>G	XP_011529012.1:p.Leu1530Val
XM_011530711.1:c.4588C>G	XP_011529013.1:p.Leu1530Val
XR_938344.1:n.4681C>G
NM_001365819.1:c.4486C>G	NP_001352748.1:p.Leu1496Val
XM_005261935.2:c.4483C>G	XP_005261992.1:p.Leu1495Val
XM_011530709.2:c.4591C>G	XP_011529011.1:p.Leu1531Val
XM_011530710.2:c.4588C>G	XP_011529012.1:p.Leu1530Val
XM_017028905.2:c.4513C>G	XP_016884394.1:p.Leu1505Val
NM_002972.4:c.4561C>G MANE Select	NP_002963.2:p.Leu1521Val