Canonical Allele Identifier: CA10316197

Gene: SBF1

Linked Data

• dbSNP Id: rs760287569
• ExAC: 22:50893526 G / A
• gnomAD v4: 22-50455097-G-A
• MyVariant Identifiers: chr22:g.50893526G>A (hg19) ; chr22:g.50455097G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455097G>A , CM000684.2:g.50455097G>A	GRCh38
NC_000022.10:g.50893526G>A , CM000684.1:g.50893526G>A	GRCh37
NC_000022.9:g.49240392G>A	NCBI36
NG_041810.1:g.24975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4522C>T	ENSP00000252027.8:p.Leu1508Phe
ENST00000418590.4:c.232C>T	ENSP00000401538.2:p.Leu78Phe
ENST00000470434.2:n.1003C>T
ENST00000684986.1:c.4603C>T	ENSP00000509117.1:p.Leu1535Phe
ENST00000685180.1:n.2488+5437C>T
ENST00000685390.1:n.2568C>T
ENST00000685411.1:n.350C>T
ENST00000685592.1:c.834C>T
ENST00000685809.1:c.4513C>T	ENSP00000508863.1:p.Leu1505Phe
ENST00000686029.1:c.678C>T
ENST00000686191.1:n.3800C>T
ENST00000686222.1:c.*4022C>T	ENSP00000508737.1:n.*4022C>T
ENST00000686321.1:c.696C>T
ENST00000686427.1:c.*1535C>T	ENSP00000510379.1:n.*1535C>T
ENST00000686758.1:n.2343C>T
ENST00000686801.1:c.4588C>T	ENSP00000509915.1:p.Leu1530Phe
ENST00000686826.1:n.919C>T
ENST00000687016.1:c.4501C>T	ENSP00000509074.1:p.Leu1501Phe
ENST00000687704.1:c.*2325C>T	ENSP00000510454.1:n.*2325C>T
ENST00000688066.1:c.4600C>T	ENSP00000510782.1:p.Leu1534Phe
ENST00000688124.1:c.*3518C>T	ENSP00000510645.1:n.*3518C>T
ENST00000688848.1:c.*3944C>T	ENSP00000509419.1:n.*3944C>T
ENST00000688985.1:c.1601C>T	ENSP00000510477.1:n.1601C>T
ENST00000689129.1:c.4525C>T	ENSP00000510414.1:p.Leu1509Phe
ENST00000689177.1:n.5872C>T
ENST00000689849.1:c.696C>T
ENST00000689981.1:c.4600C>T	ENSP00000509035.1:p.Leu1534Phe
ENST00000690369.1:n.4618C>T
ENST00000690590.1:n.1647C>T
ENST00000690990.1:c.4594C>T	ENSP00000510461.1:p.Leu1532Phe
ENST00000691233.1:c.4519C>T	ENSP00000509215.1:p.Leu1507Phe
ENST00000691306.1:c.698C>T
ENST00000691345.1:n.2302+1119C>T
ENST00000691792.1:c.4588C>T	ENSP00000509911.1:p.Leu1530Phe
ENST00000691959.1:n.5319C>T
ENST00000692844.1:n.1684C>T
ENST00000692946.1:c.696C>T
ENST00000693052.1:c.4618C>T	ENSP00000509558.1:p.Leu1540Phe
ENST00000693289.1:n.1759C>T
ENST00000693440.1:c.4597C>T	ENSP00000509462.1:p.Leu1533Phe
ENST00000693499.1:n.5525C>T
ENST00000693591.1:n.3337C>T
ENST00000380817.8:c.4600C>T MANE Select	ENSP00000370196.2:p.Leu1534Phe
ENST00000348911.10:c.4525C>T	ENSP00000252027.7:p.Leu1509Phe
ENST00000380817.7:c.4600C>T	ENSP00000370196.2:p.Leu1534Phe
ENST00000418590.3:c.200C>T
ENST00000470434.1:n.741C>T
NM_002972.3:c.4600C>T	NP_002963.2:p.Leu1534Phe
XM_005261931.1:c.4603C>T	XP_005261988.1:p.Leu1535Phe
XM_005261935.1:c.4522C>T	XP_005261992.1:p.Leu1508Phe
XM_011530707.1:c.4702C>T	XP_011529009.1:p.Leu1568Phe
XM_011530708.1:c.4654C>T	XP_011529010.1:p.Leu1552Phe
XM_011530709.1:c.4630C>T	XP_011529011.1:p.Leu1544Phe
XM_011530710.1:c.4627C>T	XP_011529012.1:p.Leu1543Phe
XM_011530711.1:c.4627C>T	XP_011529013.1:p.Leu1543Phe
XR_938344.1:n.4720C>T
NM_001365819.1:c.4525C>T	NP_001352748.1:p.Leu1509Phe
XM_005261935.2:c.4522C>T	XP_005261992.1:p.Leu1508Phe
XM_011530709.2:c.4630C>T	XP_011529011.1:p.Leu1544Phe
XM_011530710.2:c.4627C>T	XP_011529012.1:p.Leu1543Phe
XM_017028905.2:c.4552C>T	XP_016884394.1:p.Leu1518Phe
NM_002972.4:c.4600C>T MANE Select	NP_002963.2:p.Leu1534Phe