Canonical Allele Identifier: CA412193452

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893334A>C (hg19) ; chr22:g.50454905A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454905A>C , CM000684.2:g.50454905A>C	GRCh38
NC_000022.10:g.50893334A>C , CM000684.1:g.50893334A>C	GRCh37
NC_000022.9:g.49240200A>C	NCBI36
NG_041810.1:g.25167T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4643T>G	ENSP00000252027.8:p.Val1548Gly
ENST00000418590.4:c.353T>G	ENSP00000401538.2:p.Val118Gly
ENST00000470434.2:n.1124T>G
ENST00000684986.1:c.4724T>G	ENSP00000509117.1:p.Val1575Gly
ENST00000685180.1:n.2488+5629T>G
ENST00000685390.1:n.2689T>G
ENST00000685411.1:n.471T>G
ENST00000685592.1:c.955T>G
ENST00000685809.1:c.4634T>G	ENSP00000508863.1:p.Val1545Gly
ENST00000686029.1:c.799T>G
ENST00000686191.1:n.3921T>G
ENST00000686222.1:c.*4143T>G	ENSP00000508737.1:n.*4143T>G
ENST00000686321.1:c.817T>G
ENST00000686427.1:c.*1656T>G	ENSP00000510379.1:n.*1656T>G
ENST00000686758.1:n.2535T>G
ENST00000686801.1:c.4709T>G	ENSP00000509915.1:p.Val1570Gly
ENST00000686826.1:n.1040T>G
ENST00000687016.1:c.4622T>G	ENSP00000509074.1:p.Val1541Gly
ENST00000687704.1:c.*2446T>G	ENSP00000510454.1:n.*2446T>G
ENST00000688066.1:c.4721T>G	ENSP00000510782.1:p.Val1574Gly
ENST00000688124.1:c.*3639T>G	ENSP00000510645.1:n.*3639T>G
ENST00000688848.1:c.*4065T>G	ENSP00000509419.1:n.*4065T>G
ENST00000688985.1:c.1722T>G	ENSP00000510477.1:n.1722T>G
ENST00000689129.1:c.4646T>G	ENSP00000510414.1:p.Val1549Gly
ENST00000689177.1:n.5993T>G
ENST00000689849.1:c.817T>G
ENST00000689981.1:c.4721T>G	ENSP00000509035.1:p.Val1574Gly
ENST00000690369.1:n.4739T>G
ENST00000690590.1:n.1768T>G
ENST00000690990.1:c.4715T>G	ENSP00000510461.1:p.Val1572Gly
ENST00000691233.1:c.4640T>G	ENSP00000509215.1:p.Val1547Gly
ENST00000691306.1:c.802T>G
ENST00000691345.1:n.2302+1311T>G
ENST00000691792.1:c.4709T>G	ENSP00000509911.1:p.Val1570Gly
ENST00000691959.1:n.5440T>G
ENST00000692844.1:n.1805T>G
ENST00000692946.1:c.817T>G
ENST00000693052.1:c.4739T>G	ENSP00000509558.1:p.Val1580Gly
ENST00000693289.1:n.1880T>G
ENST00000693440.1:c.4718T>G	ENSP00000509462.1:p.Val1573Gly
ENST00000693499.1:n.5717T>G
ENST00000693591.1:n.3529T>G
ENST00000380817.8:c.4721T>G MANE Select	ENSP00000370196.2:p.Val1574Gly
ENST00000348911.10:c.4646T>G	ENSP00000252027.7:p.Val1549Gly
ENST00000380817.7:c.4721T>G	ENSP00000370196.2:p.Val1574Gly
ENST00000418590.3:c.321T>G
ENST00000470434.1:n.862T>G
NM_002972.3:c.4721T>G	NP_002963.2:p.Val1574Gly
XM_005261931.1:c.4724T>G	XP_005261988.1:p.Val1575Gly
XM_005261935.1:c.4643T>G	XP_005261992.1:p.Val1548Gly
XM_011530707.1:c.4823T>G	XP_011529009.1:p.Val1608Gly
XM_011530708.1:c.4775T>G	XP_011529010.1:p.Val1592Gly
XM_011530709.1:c.4751T>G	XP_011529011.1:p.Val1584Gly
XM_011530710.1:c.4748T>G	XP_011529012.1:p.Val1583Gly
XM_011530711.1:c.4748T>G	XP_011529013.1:p.Val1583Gly
XR_938344.1:n.4841T>G
NM_001365819.1:c.4646T>G	NP_001352748.1:p.Val1549Gly
XM_005261935.2:c.4643T>G	XP_005261992.1:p.Val1548Gly
XM_011530709.2:c.4751T>G	XP_011529011.1:p.Val1584Gly
XM_011530710.2:c.4748T>G	XP_011529012.1:p.Val1583Gly
XM_017028905.2:c.4673T>G	XP_016884394.1:p.Val1558Gly
NM_002972.4:c.4721T>G MANE Select	NP_002963.2:p.Val1574Gly