Canonical Allele Identifier: CA412194516

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893509G>C (hg19) ; chr22:g.50455080G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455080G>C , CM000684.2:g.50455080G>C	GRCh38
NC_000022.10:g.50893509G>C , CM000684.1:g.50893509G>C	GRCh37
NC_000022.9:g.49240375G>C	NCBI36
NG_041810.1:g.24992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4539C>G	ENSP00000252027.8:p.Tyr1513Ter
ENST00000418590.4:c.249C>G	ENSP00000401538.2:p.Tyr83Ter
ENST00000470434.2:n.1020C>G
ENST00000684986.1:c.4620C>G	ENSP00000509117.1:p.Tyr1540Ter
ENST00000685180.1:n.2488+5454C>G
ENST00000685390.1:n.2585C>G
ENST00000685411.1:n.367C>G
ENST00000685592.1:c.851C>G
ENST00000685809.1:c.4530C>G	ENSP00000508863.1:p.Tyr1510Ter
ENST00000686029.1:c.695C>G
ENST00000686191.1:n.3817C>G
ENST00000686222.1:c.*4039C>G	ENSP00000508737.1:n.*4039C>G
ENST00000686321.1:c.713C>G
ENST00000686427.1:c.*1552C>G	ENSP00000510379.1:n.*1552C>G
ENST00000686758.1:n.2360C>G
ENST00000686801.1:c.4605C>G	ENSP00000509915.1:p.Tyr1535Ter
ENST00000686826.1:n.936C>G
ENST00000687016.1:c.4518C>G	ENSP00000509074.1:p.Tyr1506Ter
ENST00000687704.1:c.*2342C>G	ENSP00000510454.1:n.*2342C>G
ENST00000688066.1:c.4617C>G	ENSP00000510782.1:p.Tyr1539Ter
ENST00000688124.1:c.*3535C>G	ENSP00000510645.1:n.*3535C>G
ENST00000688848.1:c.*3961C>G	ENSP00000509419.1:n.*3961C>G
ENST00000688985.1:c.1618C>G	ENSP00000510477.1:n.1618C>G
ENST00000689129.1:c.4542C>G	ENSP00000510414.1:p.Tyr1514Ter
ENST00000689177.1:n.5889C>G
ENST00000689849.1:c.713C>G
ENST00000689981.1:c.4617C>G	ENSP00000509035.1:p.Tyr1539Ter
ENST00000690369.1:n.4635C>G
ENST00000690590.1:n.1664C>G
ENST00000690990.1:c.4611C>G	ENSP00000510461.1:p.Tyr1537Ter
ENST00000691233.1:c.4536C>G	ENSP00000509215.1:p.Tyr1512Ter
ENST00000691306.1:c.715C>G
ENST00000691345.1:n.2302+1136C>G
ENST00000691792.1:c.4605C>G	ENSP00000509911.1:p.Tyr1535Ter
ENST00000691959.1:n.5336C>G
ENST00000692844.1:n.1701C>G
ENST00000692946.1:c.713C>G
ENST00000693052.1:c.4635C>G	ENSP00000509558.1:p.Tyr1545Ter
ENST00000693289.1:n.1776C>G
ENST00000693440.1:c.4614C>G	ENSP00000509462.1:p.Tyr1538Ter
ENST00000693499.1:n.5542C>G
ENST00000693591.1:n.3354C>G
ENST00000380817.8:c.4617C>G MANE Select	ENSP00000370196.2:p.Tyr1539Ter
ENST00000348911.10:c.4542C>G	ENSP00000252027.7:p.Tyr1514Ter
ENST00000380817.7:c.4617C>G	ENSP00000370196.2:p.Tyr1539Ter
ENST00000418590.3:c.217C>G
ENST00000470434.1:n.758C>G
NM_002972.3:c.4617C>G	NP_002963.2:p.Tyr1539Ter
XM_005261931.1:c.4620C>G	XP_005261988.1:p.Tyr1540Ter
XM_005261935.1:c.4539C>G	XP_005261992.1:p.Tyr1513Ter
XM_011530707.1:c.4719C>G	XP_011529009.1:p.Tyr1573Ter
XM_011530708.1:c.4671C>G	XP_011529010.1:p.Tyr1557Ter
XM_011530709.1:c.4647C>G	XP_011529011.1:p.Tyr1549Ter
XM_011530710.1:c.4644C>G	XP_011529012.1:p.Tyr1548Ter
XM_011530711.1:c.4644C>G	XP_011529013.1:p.Tyr1548Ter
XR_938344.1:n.4737C>G
NM_001365819.1:c.4542C>G	NP_001352748.1:p.Tyr1514Ter
XM_005261935.2:c.4539C>G	XP_005261992.1:p.Tyr1513Ter
XM_011530709.2:c.4647C>G	XP_011529011.1:p.Tyr1549Ter
XM_011530710.2:c.4644C>G	XP_011529012.1:p.Tyr1548Ter
XM_017028905.2:c.4569C>G	XP_016884394.1:p.Tyr1523Ter
NM_002972.4:c.4617C>G MANE Select	NP_002963.2:p.Tyr1539Ter