Canonical Allele Identifier: CA412193191

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454875-T-C
• MyVariant Identifiers: chr22:g.50893304T>C (hg19) ; chr22:g.50454875T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454875T>C , CM000684.2:g.50454875T>C	GRCh38
NC_000022.10:g.50893304T>C , CM000684.1:g.50893304T>C	GRCh37
NC_000022.9:g.49240170T>C	NCBI36
NG_041810.1:g.25197A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4673A>G	ENSP00000252027.8:p.Asp1558Gly
ENST00000418590.4:c.383A>G	ENSP00000401538.2:p.Asp128Gly
ENST00000470434.2:n.1154A>G
ENST00000684986.1:c.4754A>G	ENSP00000509117.1:p.Asp1585Gly
ENST00000685180.1:n.2488+5659A>G
ENST00000685390.1:n.2719A>G
ENST00000685411.1:n.501A>G
ENST00000685592.1:c.985A>G
ENST00000685809.1:c.4664A>G	ENSP00000508863.1:p.Asp1555Gly
ENST00000686029.1:c.829A>G
ENST00000686191.1:n.3951A>G
ENST00000686222.1:c.*4173A>G	ENSP00000508737.1:n.*4173A>G
ENST00000686321.1:c.847A>G
ENST00000686427.1:c.*1686A>G	ENSP00000510379.1:n.*1686A>G
ENST00000686758.1:n.2565A>G
ENST00000686801.1:c.4739A>G	ENSP00000509915.1:p.Asp1580Gly
ENST00000686826.1:n.1070A>G
ENST00000687016.1:c.4652A>G	ENSP00000509074.1:p.Asp1551Gly
ENST00000687704.1:c.*2476A>G	ENSP00000510454.1:n.*2476A>G
ENST00000688066.1:c.4751A>G	ENSP00000510782.1:p.Asp1584Gly
ENST00000688124.1:c.*3669A>G	ENSP00000510645.1:n.*3669A>G
ENST00000688848.1:c.*4095A>G	ENSP00000509419.1:n.*4095A>G
ENST00000688985.1:c.1752A>G	ENSP00000510477.1:n.1752A>G
ENST00000689129.1:c.4676A>G	ENSP00000510414.1:p.Asp1559Gly
ENST00000689177.1:n.6023A>G
ENST00000689849.1:c.847A>G
ENST00000689981.1:c.4751A>G	ENSP00000509035.1:p.Asp1584Gly
ENST00000690369.1:n.4769A>G
ENST00000690590.1:n.1798A>G
ENST00000690990.1:c.4745A>G	ENSP00000510461.1:p.Asp1582Gly
ENST00000691233.1:c.4670A>G	ENSP00000509215.1:p.Asp1557Gly
ENST00000691306.1:c.832A>G
ENST00000691345.1:n.2302+1341A>G
ENST00000691792.1:c.4739A>G	ENSP00000509911.1:p.Asp1580Gly
ENST00000691959.1:n.5470A>G
ENST00000692844.1:n.1835A>G
ENST00000692946.1:c.847A>G
ENST00000693052.1:c.4769A>G	ENSP00000509558.1:p.Asp1590Gly
ENST00000693289.1:n.1910A>G
ENST00000693440.1:c.4748A>G	ENSP00000509462.1:p.Asp1583Gly
ENST00000693499.1:n.5747A>G
ENST00000693591.1:n.3559A>G
ENST00000380817.8:c.4751A>G MANE Select	ENSP00000370196.2:p.Asp1584Gly
ENST00000348911.10:c.4676A>G	ENSP00000252027.7:p.Asp1559Gly
ENST00000380817.7:c.4751A>G	ENSP00000370196.2:p.Asp1584Gly
ENST00000418590.3:c.351A>G
ENST00000470434.1:n.892A>G
NM_002972.3:c.4751A>G	NP_002963.2:p.Asp1584Gly
XM_005261931.1:c.4754A>G	XP_005261988.1:p.Asp1585Gly
XM_005261935.1:c.4673A>G	XP_005261992.1:p.Asp1558Gly
XM_011530707.1:c.4853A>G	XP_011529009.1:p.Asp1618Gly
XM_011530708.1:c.4805A>G	XP_011529010.1:p.Asp1602Gly
XM_011530709.1:c.4781A>G	XP_011529011.1:p.Asp1594Gly
XM_011530710.1:c.4778A>G	XP_011529012.1:p.Asp1593Gly
XM_011530711.1:c.4778A>G	XP_011529013.1:p.Asp1593Gly
XR_938344.1:n.4871A>G
NM_001365819.1:c.4676A>G	NP_001352748.1:p.Asp1559Gly
XM_005261935.2:c.4673A>G	XP_005261992.1:p.Asp1558Gly
XM_011530709.2:c.4781A>G	XP_011529011.1:p.Asp1594Gly
XM_011530710.2:c.4778A>G	XP_011529012.1:p.Asp1593Gly
XM_017028905.2:c.4703A>G	XP_016884394.1:p.Asp1568Gly
NM_002972.4:c.4751A>G MANE Select	NP_002963.2:p.Asp1584Gly