Canonical Allele Identifier: CA515382828

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893487G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455058G>T , CM000684.2:g.50455058G>T	GRCh38
NC_000022.10:g.50893487G>T , CM000684.1:g.50893487G>T	GRCh37
NC_000022.9:g.49240353G>T	NCBI36
NG_041810.1:g.25014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4561C>A	ENSP00000252027.8:p.Arg1521=
ENST00000418590.4:c.271C>A	ENSP00000401538.2:p.Arg91=
ENST00000470434.2:n.1042C>A
ENST00000684986.1:c.4642C>A	ENSP00000509117.1:p.Arg1548=
ENST00000685180.1:n.2488+5476C>A
ENST00000685390.1:n.2607C>A
ENST00000685411.1:n.389C>A
ENST00000685592.1:c.873C>A
ENST00000685809.1:c.4552C>A	ENSP00000508863.1:p.Arg1518=
ENST00000686029.1:c.717C>A
ENST00000686191.1:n.3839C>A
ENST00000686222.1:c.*4061C>A	ENSP00000508737.1:n.*4061C>A
ENST00000686321.1:c.735C>A
ENST00000686427.1:c.*1574C>A	ENSP00000510379.1:n.*1574C>A
ENST00000686758.1:n.2382C>A
ENST00000686801.1:c.4627C>A	ENSP00000509915.1:p.Arg1543=
ENST00000686826.1:n.958C>A
ENST00000687016.1:c.4540C>A	ENSP00000509074.1:p.Arg1514=
ENST00000687704.1:c.*2364C>A	ENSP00000510454.1:n.*2364C>A
ENST00000688066.1:c.4639C>A	ENSP00000510782.1:p.Arg1547=
ENST00000688124.1:c.*3557C>A	ENSP00000510645.1:n.*3557C>A
ENST00000688848.1:c.*3983C>A	ENSP00000509419.1:n.*3983C>A
ENST00000688985.1:c.1640C>A	ENSP00000510477.1:n.1640C>A
ENST00000689129.1:c.4564C>A	ENSP00000510414.1:p.Arg1522=
ENST00000689177.1:n.5911C>A
ENST00000689849.1:c.735C>A
ENST00000689981.1:c.4639C>A	ENSP00000509035.1:p.Arg1547=
ENST00000690369.1:n.4657C>A
ENST00000690590.1:n.1686C>A
ENST00000690990.1:c.4633C>A	ENSP00000510461.1:p.Arg1545=
ENST00000691233.1:c.4558C>A	ENSP00000509215.1:p.Arg1520=
ENST00000691306.1:c.737C>A
ENST00000691345.1:n.2302+1158C>A
ENST00000691792.1:c.4627C>A	ENSP00000509911.1:p.Arg1543=
ENST00000691959.1:n.5358C>A
ENST00000692844.1:n.1723C>A
ENST00000692946.1:c.735C>A
ENST00000693052.1:c.4657C>A	ENSP00000509558.1:p.Arg1553=
ENST00000693289.1:n.1798C>A
ENST00000693440.1:c.4636C>A	ENSP00000509462.1:p.Arg1546=
ENST00000693499.1:n.5564C>A
ENST00000693591.1:n.3376C>A
ENST00000380817.8:c.4639C>A MANE Select	ENSP00000370196.2:p.Arg1547=
ENST00000348911.10:c.4564C>A	ENSP00000252027.7:p.Arg1522=
ENST00000380817.7:c.4639C>A	ENSP00000370196.2:p.Arg1547=
ENST00000418590.3:c.239C>A
ENST00000470434.1:n.780C>A
NM_002972.3:c.4639C>A	NP_002963.2:p.Arg1547=
XM_005261931.1:c.4642C>A	XP_005261988.1:p.Arg1548=
XM_005261935.1:c.4561C>A	XP_005261992.1:p.Arg1521=
XM_011530707.1:c.4741C>A	XP_011529009.1:p.Arg1581=
XM_011530708.1:c.4693C>A	XP_011529010.1:p.Arg1565=
XM_011530709.1:c.4669C>A	XP_011529011.1:p.Arg1557=
XM_011530710.1:c.4666C>A	XP_011529012.1:p.Arg1556=
XM_011530711.1:c.4666C>A	XP_011529013.1:p.Arg1556=
XR_938344.1:n.4759C>A
NM_001365819.1:c.4564C>A	NP_001352748.1:p.Arg1522=
XM_005261935.2:c.4561C>A	XP_005261992.1:p.Arg1521=
XM_011530709.2:c.4669C>A	XP_011529011.1:p.Arg1557=
XM_011530710.2:c.4666C>A	XP_011529012.1:p.Arg1556=
XM_017028905.2:c.4591C>A	XP_016884394.1:p.Arg1531=
NM_002972.4:c.4639C>A MANE Select	NP_002963.2:p.Arg1547=