Canonical Allele Identifier: CA412194302

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893490A>C (hg19) ; chr22:g.50455061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455061A>C , CM000684.2:g.50455061A>C	GRCh38
NC_000022.10:g.50893490A>C , CM000684.1:g.50893490A>C	GRCh37
NC_000022.9:g.49240356A>C	NCBI36
NG_041810.1:g.25011T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4558T>G	ENSP00000252027.8:p.Phe1520Val
ENST00000418590.4:c.268T>G	ENSP00000401538.2:p.Phe90Val
ENST00000470434.2:n.1039T>G
ENST00000684986.1:c.4639T>G	ENSP00000509117.1:p.Phe1547Val
ENST00000685180.1:n.2488+5473T>G
ENST00000685390.1:n.2604T>G
ENST00000685411.1:n.386T>G
ENST00000685592.1:c.870T>G
ENST00000685809.1:c.4549T>G	ENSP00000508863.1:p.Phe1517Val
ENST00000686029.1:c.714T>G
ENST00000686191.1:n.3836T>G
ENST00000686222.1:c.*4058T>G	ENSP00000508737.1:n.*4058T>G
ENST00000686321.1:c.732T>G
ENST00000686427.1:c.*1571T>G	ENSP00000510379.1:n.*1571T>G
ENST00000686758.1:n.2379T>G
ENST00000686801.1:c.4624T>G	ENSP00000509915.1:p.Phe1542Val
ENST00000686826.1:n.955T>G
ENST00000687016.1:c.4537T>G	ENSP00000509074.1:p.Phe1513Val
ENST00000687704.1:c.*2361T>G	ENSP00000510454.1:n.*2361T>G
ENST00000688066.1:c.4636T>G	ENSP00000510782.1:p.Phe1546Val
ENST00000688124.1:c.*3554T>G	ENSP00000510645.1:n.*3554T>G
ENST00000688848.1:c.*3980T>G	ENSP00000509419.1:n.*3980T>G
ENST00000688985.1:c.1637T>G	ENSP00000510477.1:n.1637T>G
ENST00000689129.1:c.4561T>G	ENSP00000510414.1:p.Phe1521Val
ENST00000689177.1:n.5908T>G
ENST00000689849.1:c.732T>G
ENST00000689981.1:c.4636T>G	ENSP00000509035.1:p.Phe1546Val
ENST00000690369.1:n.4654T>G
ENST00000690590.1:n.1683T>G
ENST00000690990.1:c.4630T>G	ENSP00000510461.1:p.Phe1544Val
ENST00000691233.1:c.4555T>G	ENSP00000509215.1:p.Phe1519Val
ENST00000691306.1:c.734T>G
ENST00000691345.1:n.2302+1155T>G
ENST00000691792.1:c.4624T>G	ENSP00000509911.1:p.Phe1542Val
ENST00000691959.1:n.5355T>G
ENST00000692844.1:n.1720T>G
ENST00000692946.1:c.732T>G
ENST00000693052.1:c.4654T>G	ENSP00000509558.1:p.Phe1552Val
ENST00000693289.1:n.1795T>G
ENST00000693440.1:c.4633T>G	ENSP00000509462.1:p.Phe1545Val
ENST00000693499.1:n.5561T>G
ENST00000693591.1:n.3373T>G
ENST00000380817.8:c.4636T>G MANE Select	ENSP00000370196.2:p.Phe1546Val
ENST00000348911.10:c.4561T>G	ENSP00000252027.7:p.Phe1521Val
ENST00000380817.7:c.4636T>G	ENSP00000370196.2:p.Phe1546Val
ENST00000418590.3:c.236T>G
ENST00000470434.1:n.777T>G
NM_002972.3:c.4636T>G	NP_002963.2:p.Phe1546Val
XM_005261931.1:c.4639T>G	XP_005261988.1:p.Phe1547Val
XM_005261935.1:c.4558T>G	XP_005261992.1:p.Phe1520Val
XM_011530707.1:c.4738T>G	XP_011529009.1:p.Phe1580Val
XM_011530708.1:c.4690T>G	XP_011529010.1:p.Phe1564Val
XM_011530709.1:c.4666T>G	XP_011529011.1:p.Phe1556Val
XM_011530710.1:c.4663T>G	XP_011529012.1:p.Phe1555Val
XM_011530711.1:c.4663T>G	XP_011529013.1:p.Phe1555Val
XR_938344.1:n.4756T>G
NM_001365819.1:c.4561T>G	NP_001352748.1:p.Phe1521Val
XM_005261935.2:c.4558T>G	XP_005261992.1:p.Phe1520Val
XM_011530709.2:c.4666T>G	XP_011529011.1:p.Phe1556Val
XM_011530710.2:c.4663T>G	XP_011529012.1:p.Phe1555Val
XM_017028905.2:c.4588T>G	XP_016884394.1:p.Phe1530Val
NM_002972.4:c.4636T>G MANE Select	NP_002963.2:p.Phe1546Val