Canonical Allele Identifier: CA10316192

Gene: SBF1

Linked Data

• dbSNP Id: rs770902093
• ExAC: 22:50893512 G / A
• gnomAD v2: 22-50893512-G-A
• gnomAD v4: 22-50455083-G-A
• MyVariant Identifiers: chr22:g.50893512G>A (hg19) ; chr22:g.50455083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455083G>A , CM000684.2:g.50455083G>A	GRCh38
NC_000022.10:g.50893512G>A , CM000684.1:g.50893512G>A	GRCh37
NC_000022.9:g.49240378G>A	NCBI36
NG_041810.1:g.24989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4536C>T	ENSP00000252027.8:p.Gly1512=
ENST00000418590.4:c.246C>T	ENSP00000401538.2:p.Gly82=
ENST00000470434.2:n.1017C>T
ENST00000684986.1:c.4617C>T	ENSP00000509117.1:p.Gly1539=
ENST00000685180.1:n.2488+5451C>T
ENST00000685390.1:n.2582C>T
ENST00000685411.1:n.364C>T
ENST00000685592.1:c.848C>T
ENST00000685809.1:c.4527C>T	ENSP00000508863.1:p.Gly1509=
ENST00000686029.1:c.692C>T
ENST00000686191.1:n.3814C>T
ENST00000686222.1:c.*4036C>T	ENSP00000508737.1:n.*4036C>T
ENST00000686321.1:c.710C>T
ENST00000686427.1:c.*1549C>T	ENSP00000510379.1:n.*1549C>T
ENST00000686758.1:n.2357C>T
ENST00000686801.1:c.4602C>T	ENSP00000509915.1:p.Gly1534=
ENST00000686826.1:n.933C>T
ENST00000687016.1:c.4515C>T	ENSP00000509074.1:p.Gly1505=
ENST00000687704.1:c.*2339C>T	ENSP00000510454.1:n.*2339C>T
ENST00000688066.1:c.4614C>T	ENSP00000510782.1:p.Gly1538=
ENST00000688124.1:c.*3532C>T	ENSP00000510645.1:n.*3532C>T
ENST00000688848.1:c.*3958C>T	ENSP00000509419.1:n.*3958C>T
ENST00000688985.1:c.1615C>T	ENSP00000510477.1:n.1615C>T
ENST00000689129.1:c.4539C>T	ENSP00000510414.1:p.Gly1513=
ENST00000689177.1:n.5886C>T
ENST00000689849.1:c.710C>T
ENST00000689981.1:c.4614C>T	ENSP00000509035.1:p.Gly1538=
ENST00000690369.1:n.4632C>T
ENST00000690590.1:n.1661C>T
ENST00000690990.1:c.4608C>T	ENSP00000510461.1:p.Gly1536=
ENST00000691233.1:c.4533C>T	ENSP00000509215.1:p.Gly1511=
ENST00000691306.1:c.712C>T
ENST00000691345.1:n.2302+1133C>T
ENST00000691792.1:c.4602C>T	ENSP00000509911.1:p.Gly1534=
ENST00000691959.1:n.5333C>T
ENST00000692844.1:n.1698C>T
ENST00000692946.1:c.710C>T
ENST00000693052.1:c.4632C>T	ENSP00000509558.1:p.Gly1544=
ENST00000693289.1:n.1773C>T
ENST00000693440.1:c.4611C>T	ENSP00000509462.1:p.Gly1537=
ENST00000693499.1:n.5539C>T
ENST00000693591.1:n.3351C>T
ENST00000380817.8:c.4614C>T MANE Select	ENSP00000370196.2:p.Gly1538=
ENST00000348911.10:c.4539C>T	ENSP00000252027.7:p.Gly1513=
ENST00000380817.7:c.4614C>T	ENSP00000370196.2:p.Gly1538=
ENST00000418590.3:c.214C>T
ENST00000470434.1:n.755C>T
NM_002972.3:c.4614C>T	NP_002963.2:p.Gly1538=
XM_005261931.1:c.4617C>T	XP_005261988.1:p.Gly1539=
XM_005261935.1:c.4536C>T	XP_005261992.1:p.Gly1512=
XM_011530707.1:c.4716C>T	XP_011529009.1:p.Gly1572=
XM_011530708.1:c.4668C>T	XP_011529010.1:p.Gly1556=
XM_011530709.1:c.4644C>T	XP_011529011.1:p.Gly1548=
XM_011530710.1:c.4641C>T	XP_011529012.1:p.Gly1547=
XM_011530711.1:c.4641C>T	XP_011529013.1:p.Gly1547=
XR_938344.1:n.4734C>T
NM_001365819.1:c.4539C>T	NP_001352748.1:p.Gly1513=
XM_005261935.2:c.4536C>T	XP_005261992.1:p.Gly1512=
XM_011530709.2:c.4644C>T	XP_011529011.1:p.Gly1548=
XM_011530710.2:c.4641C>T	XP_011529012.1:p.Gly1547=
XM_017028905.2:c.4566C>T	XP_016884394.1:p.Gly1522=
NM_002972.4:c.4614C>T MANE Select	NP_002963.2:p.Gly1538=