Canonical Allele Identifier: CA412195309

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893532A>C (hg19) ; chr22:g.50455103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455103A>C , CM000684.2:g.50455103A>C	GRCh38
NC_000022.10:g.50893532A>C , CM000684.1:g.50893532A>C	GRCh37
NC_000022.9:g.49240398A>C	NCBI36
NG_041810.1:g.24969T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4516T>G	ENSP00000252027.8:p.Phe1506Val
ENST00000418590.4:c.226T>G	ENSP00000401538.2:p.Phe76Val
ENST00000470434.2:n.997T>G
ENST00000684986.1:c.4597T>G	ENSP00000509117.1:p.Phe1533Val
ENST00000685180.1:n.2488+5431T>G
ENST00000685390.1:n.2562T>G
ENST00000685411.1:n.344T>G
ENST00000685592.1:c.828T>G
ENST00000685809.1:c.4507T>G	ENSP00000508863.1:p.Phe1503Val
ENST00000686029.1:c.672T>G
ENST00000686191.1:n.3794T>G
ENST00000686222.1:c.*4016T>G	ENSP00000508737.1:n.*4016T>G
ENST00000686321.1:c.690T>G
ENST00000686427.1:c.*1529T>G	ENSP00000510379.1:n.*1529T>G
ENST00000686758.1:n.2337T>G
ENST00000686801.1:c.4582T>G	ENSP00000509915.1:p.Phe1528Val
ENST00000686826.1:n.913T>G
ENST00000687016.1:c.4495T>G	ENSP00000509074.1:p.Phe1499Val
ENST00000687704.1:c.*2319T>G	ENSP00000510454.1:n.*2319T>G
ENST00000688066.1:c.4594T>G	ENSP00000510782.1:p.Phe1532Val
ENST00000688124.1:c.*3512T>G	ENSP00000510645.1:n.*3512T>G
ENST00000688848.1:c.*3938T>G	ENSP00000509419.1:n.*3938T>G
ENST00000688985.1:c.1595T>G	ENSP00000510477.1:n.1595T>G
ENST00000689129.1:c.4519T>G	ENSP00000510414.1:p.Phe1507Val
ENST00000689177.1:n.5866T>G
ENST00000689849.1:c.690T>G
ENST00000689981.1:c.4594T>G	ENSP00000509035.1:p.Phe1532Val
ENST00000690369.1:n.4612T>G
ENST00000690590.1:n.1641T>G
ENST00000690990.1:c.4588T>G	ENSP00000510461.1:p.Phe1530Val
ENST00000691233.1:c.4513T>G	ENSP00000509215.1:p.Phe1505Val
ENST00000691306.1:c.692T>G
ENST00000691345.1:n.2302+1113T>G
ENST00000691792.1:c.4582T>G	ENSP00000509911.1:p.Phe1528Val
ENST00000691959.1:n.5313T>G
ENST00000692844.1:n.1678T>G
ENST00000692946.1:c.690T>G
ENST00000693052.1:c.4612T>G	ENSP00000509558.1:p.Phe1538Val
ENST00000693289.1:n.1753T>G
ENST00000693440.1:c.4591T>G	ENSP00000509462.1:p.Phe1531Val
ENST00000693499.1:n.5519T>G
ENST00000693591.1:n.3331T>G
ENST00000380817.8:c.4594T>G MANE Select	ENSP00000370196.2:p.Phe1532Val
ENST00000348911.10:c.4519T>G	ENSP00000252027.7:p.Phe1507Val
ENST00000380817.7:c.4594T>G	ENSP00000370196.2:p.Phe1532Val
ENST00000418590.3:c.194T>G
ENST00000470434.1:n.735T>G
NM_002972.3:c.4594T>G	NP_002963.2:p.Phe1532Val
XM_005261931.1:c.4597T>G	XP_005261988.1:p.Phe1533Val
XM_005261935.1:c.4516T>G	XP_005261992.1:p.Phe1506Val
XM_011530707.1:c.4696T>G	XP_011529009.1:p.Phe1566Val
XM_011530708.1:c.4648T>G	XP_011529010.1:p.Phe1550Val
XM_011530709.1:c.4624T>G	XP_011529011.1:p.Phe1542Val
XM_011530710.1:c.4621T>G	XP_011529012.1:p.Phe1541Val
XM_011530711.1:c.4621T>G	XP_011529013.1:p.Phe1541Val
XR_938344.1:n.4714T>G
NM_001365819.1:c.4519T>G	NP_001352748.1:p.Phe1507Val
XM_005261935.2:c.4516T>G	XP_005261992.1:p.Phe1506Val
XM_011530709.2:c.4624T>G	XP_011529011.1:p.Phe1542Val
XM_011530710.2:c.4621T>G	XP_011529012.1:p.Phe1541Val
XM_017028905.2:c.4546T>G	XP_016884394.1:p.Phe1516Val
NM_002972.4:c.4594T>G MANE Select	NP_002963.2:p.Phe1532Val