Canonical Allele Identifier: CA412195390

Gene: SBF1

Linked Data

• dbSNP Id: rs2067196663
• MyVariant Identifiers: chr22:g.50893555G>A (hg19) ; chr22:g.50455126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455126G>A , CM000684.2:g.50455126G>A	GRCh38
NC_000022.10:g.50893555G>A , CM000684.1:g.50893555G>A	GRCh37
NC_000022.9:g.49240421G>A	NCBI36
NG_041810.1:g.24946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4493C>T	ENSP00000252027.8:p.Pro1498Leu
ENST00000418590.4:c.203C>T	ENSP00000401538.2:p.Pro68Leu
ENST00000470434.2:n.974C>T
ENST00000684986.1:c.4574C>T	ENSP00000509117.1:p.Pro1525Leu
ENST00000685180.1:n.2488+5408C>T
ENST00000685390.1:n.2539C>T
ENST00000685411.1:n.321C>T
ENST00000685592.1:c.805C>T
ENST00000685809.1:c.4484C>T	ENSP00000508863.1:p.Pro1495Leu
ENST00000686029.1:c.649C>T
ENST00000686191.1:n.3771C>T
ENST00000686222.1:c.*3993C>T	ENSP00000508737.1:n.*3993C>T
ENST00000686321.1:c.667C>T
ENST00000686427.1:c.*1506C>T	ENSP00000510379.1:n.*1506C>T
ENST00000686758.1:n.2314C>T
ENST00000686801.1:c.4559C>T	ENSP00000509915.1:p.Pro1520Leu
ENST00000686826.1:n.890C>T
ENST00000687016.1:c.4472C>T	ENSP00000509074.1:p.Pro1491Leu
ENST00000687704.1:c.*2296C>T	ENSP00000510454.1:n.*2296C>T
ENST00000688066.1:c.4571C>T	ENSP00000510782.1:p.Pro1524Leu
ENST00000688124.1:c.*3489C>T	ENSP00000510645.1:n.*3489C>T
ENST00000688848.1:c.*3915C>T	ENSP00000509419.1:n.*3915C>T
ENST00000688985.1:c.1572C>T	ENSP00000510477.1:n.1572C>T
ENST00000689129.1:c.4496C>T	ENSP00000510414.1:p.Pro1499Leu
ENST00000689177.1:n.5843C>T
ENST00000689849.1:c.667C>T
ENST00000689981.1:c.4571C>T	ENSP00000509035.1:p.Pro1524Leu
ENST00000690369.1:n.4589C>T
ENST00000690590.1:n.1618C>T
ENST00000690990.1:c.4565C>T	ENSP00000510461.1:p.Pro1522Leu
ENST00000691233.1:c.4490C>T	ENSP00000509215.1:p.Pro1497Leu
ENST00000691306.1:c.669C>T
ENST00000691345.1:n.2302+1090C>T
ENST00000691792.1:c.4559C>T	ENSP00000509911.1:p.Pro1520Leu
ENST00000691959.1:n.5290C>T
ENST00000692844.1:n.1655C>T
ENST00000692946.1:c.667C>T
ENST00000693052.1:c.4589C>T	ENSP00000509558.1:p.Pro1530Leu
ENST00000693289.1:n.1730C>T
ENST00000693440.1:c.4568C>T	ENSP00000509462.1:p.Pro1523Leu
ENST00000693499.1:n.5496C>T
ENST00000693591.1:n.3308C>T
ENST00000380817.8:c.4571C>T MANE Select	ENSP00000370196.2:p.Pro1524Leu
ENST00000348911.10:c.4496C>T	ENSP00000252027.7:p.Pro1499Leu
ENST00000380817.7:c.4571C>T	ENSP00000370196.2:p.Pro1524Leu
ENST00000418590.3:c.171C>T
ENST00000470434.1:n.712C>T
NM_002972.3:c.4571C>T	NP_002963.2:p.Pro1524Leu
XM_005261931.1:c.4574C>T	XP_005261988.1:p.Pro1525Leu
XM_005261935.1:c.4493C>T	XP_005261992.1:p.Pro1498Leu
XM_011530707.1:c.4673C>T	XP_011529009.1:p.Pro1558Leu
XM_011530708.1:c.4625C>T	XP_011529010.1:p.Pro1542Leu
XM_011530709.1:c.4601C>T	XP_011529011.1:p.Pro1534Leu
XM_011530710.1:c.4598C>T	XP_011529012.1:p.Pro1533Leu
XM_011530711.1:c.4598C>T	XP_011529013.1:p.Pro1533Leu
XR_938344.1:n.4691C>T
NM_001365819.1:c.4496C>T	NP_001352748.1:p.Pro1499Leu
XM_005261935.2:c.4493C>T	XP_005261992.1:p.Pro1498Leu
XM_011530709.2:c.4601C>T	XP_011529011.1:p.Pro1534Leu
XM_011530710.2:c.4598C>T	XP_011529012.1:p.Pro1533Leu
XM_017028905.2:c.4523C>T	XP_016884394.1:p.Pro1508Leu
NM_002972.4:c.4571C>T MANE Select	NP_002963.2:p.Pro1524Leu