Canonical Allele Identifier: CA412194356

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893496G>C (hg19) ; chr22:g.50455067G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455067G>C , CM000684.2:g.50455067G>C	GRCh38
NC_000022.10:g.50893496G>C , CM000684.1:g.50893496G>C	GRCh37
NC_000022.9:g.49240362G>C	NCBI36
NG_041810.1:g.25005C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4552C>G	ENSP00000252027.8:p.Arg1518Gly
ENST00000418590.4:c.262C>G	ENSP00000401538.2:p.Arg88Gly
ENST00000470434.2:n.1033C>G
ENST00000684986.1:c.4633C>G	ENSP00000509117.1:p.Arg1545Gly
ENST00000685180.1:n.2488+5467C>G
ENST00000685390.1:n.2598C>G
ENST00000685411.1:n.380C>G
ENST00000685592.1:c.864C>G
ENST00000685809.1:c.4543C>G	ENSP00000508863.1:p.Arg1515Gly
ENST00000686029.1:c.708C>G
ENST00000686191.1:n.3830C>G
ENST00000686222.1:c.*4052C>G	ENSP00000508737.1:n.*4052C>G
ENST00000686321.1:c.726C>G
ENST00000686427.1:c.*1565C>G	ENSP00000510379.1:n.*1565C>G
ENST00000686758.1:n.2373C>G
ENST00000686801.1:c.4618C>G	ENSP00000509915.1:p.Arg1540Gly
ENST00000686826.1:n.949C>G
ENST00000687016.1:c.4531C>G	ENSP00000509074.1:p.Arg1511Gly
ENST00000687704.1:c.*2355C>G	ENSP00000510454.1:n.*2355C>G
ENST00000688066.1:c.4630C>G	ENSP00000510782.1:p.Arg1544Gly
ENST00000688124.1:c.*3548C>G	ENSP00000510645.1:n.*3548C>G
ENST00000688848.1:c.*3974C>G	ENSP00000509419.1:n.*3974C>G
ENST00000688985.1:c.1631C>G	ENSP00000510477.1:n.1631C>G
ENST00000689129.1:c.4555C>G	ENSP00000510414.1:p.Arg1519Gly
ENST00000689177.1:n.5902C>G
ENST00000689849.1:c.726C>G
ENST00000689981.1:c.4630C>G	ENSP00000509035.1:p.Arg1544Gly
ENST00000690369.1:n.4648C>G
ENST00000690590.1:n.1677C>G
ENST00000690990.1:c.4624C>G	ENSP00000510461.1:p.Arg1542Gly
ENST00000691233.1:c.4549C>G	ENSP00000509215.1:p.Arg1517Gly
ENST00000691306.1:c.728C>G
ENST00000691345.1:n.2302+1149C>G
ENST00000691792.1:c.4618C>G	ENSP00000509911.1:p.Arg1540Gly
ENST00000691959.1:n.5349C>G
ENST00000692844.1:n.1714C>G
ENST00000692946.1:c.726C>G
ENST00000693052.1:c.4648C>G	ENSP00000509558.1:p.Arg1550Gly
ENST00000693289.1:n.1789C>G
ENST00000693440.1:c.4627C>G	ENSP00000509462.1:p.Arg1543Gly
ENST00000693499.1:n.5555C>G
ENST00000693591.1:n.3367C>G
ENST00000380817.8:c.4630C>G MANE Select	ENSP00000370196.2:p.Arg1544Gly
ENST00000348911.10:c.4555C>G	ENSP00000252027.7:p.Arg1519Gly
ENST00000380817.7:c.4630C>G	ENSP00000370196.2:p.Arg1544Gly
ENST00000418590.3:c.230C>G
ENST00000470434.1:n.771C>G
NM_002972.3:c.4630C>G	NP_002963.2:p.Arg1544Gly
XM_005261931.1:c.4633C>G	XP_005261988.1:p.Arg1545Gly
XM_005261935.1:c.4552C>G	XP_005261992.1:p.Arg1518Gly
XM_011530707.1:c.4732C>G	XP_011529009.1:p.Arg1578Gly
XM_011530708.1:c.4684C>G	XP_011529010.1:p.Arg1562Gly
XM_011530709.1:c.4660C>G	XP_011529011.1:p.Arg1554Gly
XM_011530710.1:c.4657C>G	XP_011529012.1:p.Arg1553Gly
XM_011530711.1:c.4657C>G	XP_011529013.1:p.Arg1553Gly
XR_938344.1:n.4750C>G
NM_001365819.1:c.4555C>G	NP_001352748.1:p.Arg1519Gly
XM_005261935.2:c.4552C>G	XP_005261992.1:p.Arg1518Gly
XM_011530709.2:c.4660C>G	XP_011529011.1:p.Arg1554Gly
XM_011530710.2:c.4657C>G	XP_011529012.1:p.Arg1553Gly
XM_017028905.2:c.4582C>G	XP_016884394.1:p.Arg1528Gly
NM_002972.4:c.4630C>G MANE Select	NP_002963.2:p.Arg1544Gly