Canonical Allele Identifier: CA412193615

Gene: SBF1

Linked Data

• gnomAD v4: 22-50454924-C-G
• MyVariant Identifiers: chr22:g.50893353C>G (hg19) ; chr22:g.50454924C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454924C>G , CM000684.2:g.50454924C>G	GRCh38
NC_000022.10:g.50893353C>G , CM000684.1:g.50893353C>G	GRCh37
NC_000022.9:g.49240219C>G	NCBI36
NG_041810.1:g.25148G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4624G>C	ENSP00000252027.8:p.Gly1542Arg
ENST00000418590.4:c.334G>C	ENSP00000401538.2:p.Gly112Arg
ENST00000470434.2:n.1105G>C
ENST00000684986.1:c.4705G>C	ENSP00000509117.1:p.Gly1569Arg
ENST00000685180.1:n.2488+5610G>C
ENST00000685390.1:n.2670G>C
ENST00000685411.1:n.452G>C
ENST00000685592.1:c.936G>C
ENST00000685809.1:c.4615G>C	ENSP00000508863.1:p.Gly1539Arg
ENST00000686029.1:c.780G>C
ENST00000686191.1:n.3902G>C
ENST00000686222.1:c.*4124G>C	ENSP00000508737.1:n.*4124G>C
ENST00000686321.1:c.798G>C
ENST00000686427.1:c.*1637G>C	ENSP00000510379.1:n.*1637G>C
ENST00000686758.1:n.2516G>C
ENST00000686801.1:c.4690G>C	ENSP00000509915.1:p.Gly1564Arg
ENST00000686826.1:n.1021G>C
ENST00000687016.1:c.4603G>C	ENSP00000509074.1:p.Gly1535Arg
ENST00000687704.1:c.*2427G>C	ENSP00000510454.1:n.*2427G>C
ENST00000688066.1:c.4702G>C	ENSP00000510782.1:p.Gly1568Arg
ENST00000688124.1:c.*3620G>C	ENSP00000510645.1:n.*3620G>C
ENST00000688848.1:c.*4046G>C	ENSP00000509419.1:n.*4046G>C
ENST00000688985.1:c.1703G>C	ENSP00000510477.1:n.1703G>C
ENST00000689129.1:c.4627G>C	ENSP00000510414.1:p.Gly1543Arg
ENST00000689177.1:n.5974G>C
ENST00000689849.1:c.798G>C
ENST00000689981.1:c.4702G>C	ENSP00000509035.1:p.Gly1568Arg
ENST00000690369.1:n.4720G>C
ENST00000690590.1:n.1749G>C
ENST00000690990.1:c.4696G>C	ENSP00000510461.1:p.Gly1566Arg
ENST00000691233.1:c.4621G>C	ENSP00000509215.1:p.Gly1541Arg
ENST00000691306.1:c.783G>C
ENST00000691345.1:n.2302+1292G>C
ENST00000691792.1:c.4690G>C	ENSP00000509911.1:p.Gly1564Arg
ENST00000691959.1:n.5421G>C
ENST00000692844.1:n.1786G>C
ENST00000692946.1:c.798G>C
ENST00000693052.1:c.4720G>C	ENSP00000509558.1:p.Gly1574Arg
ENST00000693289.1:n.1861G>C
ENST00000693440.1:c.4699G>C	ENSP00000509462.1:p.Gly1567Arg
ENST00000693499.1:n.5698G>C
ENST00000693591.1:n.3510G>C
ENST00000380817.8:c.4702G>C MANE Select	ENSP00000370196.2:p.Gly1568Arg
ENST00000348911.10:c.4627G>C	ENSP00000252027.7:p.Gly1543Arg
ENST00000380817.7:c.4702G>C	ENSP00000370196.2:p.Gly1568Arg
ENST00000418590.3:c.302G>C
ENST00000470434.1:n.843G>C
NM_002972.3:c.4702G>C	NP_002963.2:p.Gly1568Arg
XM_005261931.1:c.4705G>C	XP_005261988.1:p.Gly1569Arg
XM_005261935.1:c.4624G>C	XP_005261992.1:p.Gly1542Arg
XM_011530707.1:c.4804G>C	XP_011529009.1:p.Gly1602Arg
XM_011530708.1:c.4756G>C	XP_011529010.1:p.Gly1586Arg
XM_011530709.1:c.4732G>C	XP_011529011.1:p.Gly1578Arg
XM_011530710.1:c.4729G>C	XP_011529012.1:p.Gly1577Arg
XM_011530711.1:c.4729G>C	XP_011529013.1:p.Gly1577Arg
XR_938344.1:n.4822G>C
NM_001365819.1:c.4627G>C	NP_001352748.1:p.Gly1543Arg
XM_005261935.2:c.4624G>C	XP_005261992.1:p.Gly1542Arg
XM_011530709.2:c.4732G>C	XP_011529011.1:p.Gly1578Arg
XM_011530710.2:c.4729G>C	XP_011529012.1:p.Gly1577Arg
XM_017028905.2:c.4654G>C	XP_016884394.1:p.Gly1552Arg
NM_002972.4:c.4702G>C MANE Select	NP_002963.2:p.Gly1568Arg