Canonical Allele Identifier: CA412195429

Gene: SBF1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4483C>A	ENSP00000252027.8:p.Leu1495Met
ENST00000418590.4:c.193C>A	ENSP00000401538.2:p.Leu65Met
ENST00000470434.2:n.964C>A
ENST00000684986.1:c.4564C>A	ENSP00000509117.1:p.Leu1522Met
ENST00000685180.1:n.2488+5398C>A
ENST00000685390.1:n.2529C>A
ENST00000685411.1:n.311C>A
ENST00000685592.1:c.795C>A
ENST00000685809.1:c.4474C>A	ENSP00000508863.1:p.Leu1492Met
ENST00000686029.1:c.639C>A
ENST00000686191.1:n.3761C>A
ENST00000686222.1:c.*3983C>A	ENSP00000508737.1:n.*3983C>A
ENST00000686321.1:c.657C>A
ENST00000686427.1:c.*1496C>A	ENSP00000510379.1:n.*1496C>A
ENST00000686758.1:n.2304C>A
ENST00000686801.1:c.4549C>A	ENSP00000509915.1:p.Leu1517Met
ENST00000686826.1:n.880C>A
ENST00000687016.1:c.4462C>A	ENSP00000509074.1:p.Leu1488Met
ENST00000687704.1:c.*2286C>A	ENSP00000510454.1:n.*2286C>A
ENST00000688066.1:c.4561C>A	ENSP00000510782.1:p.Leu1521Met
ENST00000688124.1:c.*3479C>A	ENSP00000510645.1:n.*3479C>A
ENST00000688848.1:c.*3905C>A	ENSP00000509419.1:n.*3905C>A
ENST00000688985.1:c.1562C>A	ENSP00000510477.1:n.1562C>A
ENST00000689129.1:c.4486C>A	ENSP00000510414.1:p.Leu1496Met
ENST00000689177.1:n.5833C>A
ENST00000689849.1:c.657C>A
ENST00000689981.1:c.4561C>A	ENSP00000509035.1:p.Leu1521Met
ENST00000690369.1:n.4579C>A
ENST00000690590.1:n.1608C>A
ENST00000690990.1:c.4555C>A	ENSP00000510461.1:p.Leu1519Met
ENST00000691233.1:c.4480C>A	ENSP00000509215.1:p.Leu1494Met
ENST00000691306.1:c.659C>A
ENST00000691345.1:n.2302+1080C>A
ENST00000691792.1:c.4555-6C>A	ENSP00000509911.1:n.4555-6C>A
ENST00000691959.1:n.5280C>A
ENST00000692844.1:n.1645C>A
ENST00000692946.1:c.657C>A
ENST00000693052.1:c.4579C>A	ENSP00000509558.1:p.Leu1527Met
ENST00000693289.1:n.1720C>A
ENST00000693440.1:c.4558C>A	ENSP00000509462.1:p.Leu1520Met
ENST00000693499.1:n.5486C>A
ENST00000693591.1:n.3298C>A
ENST00000380817.8:c.4561C>A MANE Select	ENSP00000370196.2:p.Leu1521Met
ENST00000348911.10:c.4486C>A	ENSP00000252027.7:p.Leu1496Met
ENST00000380817.7:c.4561C>A	ENSP00000370196.2:p.Leu1521Met
ENST00000418590.3:c.161C>A
ENST00000470434.1:n.702C>A
NM_002972.3:c.4561C>A	NP_002963.2:p.Leu1521Met
XM_005261931.1:c.4564C>A	XP_005261988.1:p.Leu1522Met
XM_005261935.1:c.4483C>A	XP_005261992.1:p.Leu1495Met
XM_011530707.1:c.4663C>A	XP_011529009.1:p.Leu1555Met
XM_011530708.1:c.4615C>A	XP_011529010.1:p.Leu1539Met
XM_011530709.1:c.4591C>A	XP_011529011.1:p.Leu1531Met
XM_011530710.1:c.4588C>A	XP_011529012.1:p.Leu1530Met
XM_011530711.1:c.4588C>A	XP_011529013.1:p.Leu1530Met
XR_938344.1:n.4681C>A
NM_001365819.1:c.4486C>A	NP_001352748.1:p.Leu1496Met
XM_005261935.2:c.4483C>A	XP_005261992.1:p.Leu1495Met
XM_011530709.2:c.4591C>A	XP_011529011.1:p.Leu1531Met
XM_011530710.2:c.4588C>A	XP_011529012.1:p.Leu1530Met
XM_017028905.2:c.4513C>A	XP_016884394.1:p.Leu1505Met
NM_002972.4:c.4561C>A MANE Select	NP_002963.2:p.Leu1521Met