Canonical Allele Identifier: CA412195293

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455099-T-C
• MyVariant Identifiers: chr22:g.50893528T>C (hg19) ; chr22:g.50455099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455099T>C , CM000684.2:g.50455099T>C	GRCh38
NC_000022.10:g.50893528T>C , CM000684.1:g.50893528T>C	GRCh37
NC_000022.9:g.49240394T>C	NCBI36
NG_041810.1:g.24973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4520A>G	ENSP00000252027.8:p.Tyr1507Cys
ENST00000418590.4:c.230A>G	ENSP00000401538.2:p.Tyr77Cys
ENST00000470434.2:n.1001A>G
ENST00000684986.1:c.4601A>G	ENSP00000509117.1:p.Tyr1534Cys
ENST00000685180.1:n.2488+5435A>G
ENST00000685390.1:n.2566A>G
ENST00000685411.1:n.348A>G
ENST00000685592.1:c.832A>G
ENST00000685809.1:c.4511A>G	ENSP00000508863.1:p.Tyr1504Cys
ENST00000686029.1:c.676A>G
ENST00000686191.1:n.3798A>G
ENST00000686222.1:c.*4020A>G	ENSP00000508737.1:n.*4020A>G
ENST00000686321.1:c.694A>G
ENST00000686427.1:c.*1533A>G	ENSP00000510379.1:n.*1533A>G
ENST00000686758.1:n.2341A>G
ENST00000686801.1:c.4586A>G	ENSP00000509915.1:p.Tyr1529Cys
ENST00000686826.1:n.917A>G
ENST00000687016.1:c.4499A>G	ENSP00000509074.1:p.Tyr1500Cys
ENST00000687704.1:c.*2323A>G	ENSP00000510454.1:n.*2323A>G
ENST00000688066.1:c.4598A>G	ENSP00000510782.1:p.Tyr1533Cys
ENST00000688124.1:c.*3516A>G	ENSP00000510645.1:n.*3516A>G
ENST00000688848.1:c.*3942A>G	ENSP00000509419.1:n.*3942A>G
ENST00000688985.1:c.1599A>G	ENSP00000510477.1:n.1599A>G
ENST00000689129.1:c.4523A>G	ENSP00000510414.1:p.Tyr1508Cys
ENST00000689177.1:n.5870A>G
ENST00000689849.1:c.694A>G
ENST00000689981.1:c.4598A>G	ENSP00000509035.1:p.Tyr1533Cys
ENST00000690369.1:n.4616A>G
ENST00000690590.1:n.1645A>G
ENST00000690990.1:c.4592A>G	ENSP00000510461.1:p.Tyr1531Cys
ENST00000691233.1:c.4517A>G	ENSP00000509215.1:p.Tyr1506Cys
ENST00000691306.1:c.696A>G
ENST00000691345.1:n.2302+1117A>G
ENST00000691792.1:c.4586A>G	ENSP00000509911.1:p.Tyr1529Cys
ENST00000691959.1:n.5317A>G
ENST00000692844.1:n.1682A>G
ENST00000692946.1:c.694A>G
ENST00000693052.1:c.4616A>G	ENSP00000509558.1:p.Tyr1539Cys
ENST00000693289.1:n.1757A>G
ENST00000693440.1:c.4595A>G	ENSP00000509462.1:p.Tyr1532Cys
ENST00000693499.1:n.5523A>G
ENST00000693591.1:n.3335A>G
ENST00000380817.8:c.4598A>G MANE Select	ENSP00000370196.2:p.Tyr1533Cys
ENST00000348911.10:c.4523A>G	ENSP00000252027.7:p.Tyr1508Cys
ENST00000380817.7:c.4598A>G	ENSP00000370196.2:p.Tyr1533Cys
ENST00000418590.3:c.198A>G
ENST00000470434.1:n.739A>G
NM_002972.3:c.4598A>G	NP_002963.2:p.Tyr1533Cys
XM_005261931.1:c.4601A>G	XP_005261988.1:p.Tyr1534Cys
XM_005261935.1:c.4520A>G	XP_005261992.1:p.Tyr1507Cys
XM_011530707.1:c.4700A>G	XP_011529009.1:p.Tyr1567Cys
XM_011530708.1:c.4652A>G	XP_011529010.1:p.Tyr1551Cys
XM_011530709.1:c.4628A>G	XP_011529011.1:p.Tyr1543Cys
XM_011530710.1:c.4625A>G	XP_011529012.1:p.Tyr1542Cys
XM_011530711.1:c.4625A>G	XP_011529013.1:p.Tyr1542Cys
XR_938344.1:n.4718A>G
NM_001365819.1:c.4523A>G	NP_001352748.1:p.Tyr1508Cys
XM_005261935.2:c.4520A>G	XP_005261992.1:p.Tyr1507Cys
XM_011530709.2:c.4628A>G	XP_011529011.1:p.Tyr1543Cys
XM_011530710.2:c.4625A>G	XP_011529012.1:p.Tyr1542Cys
XM_017028905.2:c.4550A>G	XP_016884394.1:p.Tyr1517Cys
NM_002972.4:c.4598A>G MANE Select	NP_002963.2:p.Tyr1533Cys