Canonical Allele Identifier: CA412193869

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893447A>T (hg19) ; chr22:g.50455018A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455018A>T , CM000684.2:g.50455018A>T	GRCh38
NC_000022.10:g.50893447A>T , CM000684.1:g.50893447A>T	GRCh37
NC_000022.9:g.49240313A>T	NCBI36
NG_041810.1:g.25054T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4601T>A	ENSP00000252027.8:p.Leu1534Gln
ENST00000418590.4:c.311T>A	ENSP00000401538.2:p.Leu104Gln
ENST00000470434.2:n.1082T>A
ENST00000684986.1:c.4682T>A	ENSP00000509117.1:p.Leu1561Gln
ENST00000685180.1:n.2488+5516T>A
ENST00000685390.1:n.2647T>A
ENST00000685411.1:n.429T>A
ENST00000685592.1:c.913T>A
ENST00000685809.1:c.4592T>A	ENSP00000508863.1:p.Leu1531Gln
ENST00000686029.1:c.757T>A
ENST00000686191.1:n.3879T>A
ENST00000686222.1:c.*4101T>A	ENSP00000508737.1:n.*4101T>A
ENST00000686321.1:c.775T>A
ENST00000686427.1:c.*1614T>A	ENSP00000510379.1:n.*1614T>A
ENST00000686758.1:n.2422T>A
ENST00000686801.1:c.4667T>A	ENSP00000509915.1:p.Leu1556Gln
ENST00000686826.1:n.998T>A
ENST00000687016.1:c.4580T>A	ENSP00000509074.1:p.Leu1527Gln
ENST00000687704.1:c.*2404T>A	ENSP00000510454.1:n.*2404T>A
ENST00000688066.1:c.4679T>A	ENSP00000510782.1:p.Leu1560Gln
ENST00000688124.1:c.*3597T>A	ENSP00000510645.1:n.*3597T>A
ENST00000688848.1:c.*4023T>A	ENSP00000509419.1:n.*4023T>A
ENST00000688985.1:c.1680T>A	ENSP00000510477.1:n.1680T>A
ENST00000689129.1:c.4604T>A	ENSP00000510414.1:p.Leu1535Gln
ENST00000689177.1:n.5951T>A
ENST00000689849.1:c.775T>A
ENST00000689981.1:c.4679T>A	ENSP00000509035.1:p.Leu1560Gln
ENST00000690369.1:n.4697T>A
ENST00000690590.1:n.1726T>A
ENST00000690990.1:c.4673T>A	ENSP00000510461.1:p.Leu1558Gln
ENST00000691233.1:c.4598T>A	ENSP00000509215.1:p.Leu1533Gln
ENST00000691306.1:c.777T>A
ENST00000691345.1:n.2302+1198T>A
ENST00000691792.1:c.4667T>A	ENSP00000509911.1:p.Leu1556Gln
ENST00000691959.1:n.5398T>A
ENST00000692844.1:n.1763T>A
ENST00000692946.1:c.775T>A
ENST00000693052.1:c.4697T>A	ENSP00000509558.1:p.Leu1566Gln
ENST00000693289.1:n.1838T>A
ENST00000693440.1:c.4676T>A	ENSP00000509462.1:p.Leu1559Gln
ENST00000693499.1:n.5604T>A
ENST00000693591.1:n.3416T>A
ENST00000380817.8:c.4679T>A MANE Select	ENSP00000370196.2:p.Leu1560Gln
ENST00000348911.10:c.4604T>A	ENSP00000252027.7:p.Leu1535Gln
ENST00000380817.7:c.4679T>A	ENSP00000370196.2:p.Leu1560Gln
ENST00000418590.3:c.279T>A
ENST00000470434.1:n.820T>A
NM_002972.3:c.4679T>A	NP_002963.2:p.Leu1560Gln
XM_005261931.1:c.4682T>A	XP_005261988.1:p.Leu1561Gln
XM_005261935.1:c.4601T>A	XP_005261992.1:p.Leu1534Gln
XM_011530707.1:c.4781T>A	XP_011529009.1:p.Leu1594Gln
XM_011530708.1:c.4733T>A	XP_011529010.1:p.Leu1578Gln
XM_011530709.1:c.4709T>A	XP_011529011.1:p.Leu1570Gln
XM_011530710.1:c.4706T>A	XP_011529012.1:p.Leu1569Gln
XM_011530711.1:c.4706T>A	XP_011529013.1:p.Leu1569Gln
XR_938344.1:n.4799T>A
NM_001365819.1:c.4604T>A	NP_001352748.1:p.Leu1535Gln
XM_005261935.2:c.4601T>A	XP_005261992.1:p.Leu1534Gln
XM_011530709.2:c.4709T>A	XP_011529011.1:p.Leu1570Gln
XM_011530710.2:c.4706T>A	XP_011529012.1:p.Leu1569Gln
XM_017028905.2:c.4631T>A	XP_016884394.1:p.Leu1544Gln
NM_002972.4:c.4679T>A MANE Select	NP_002963.2:p.Leu1560Gln