Canonical Allele Identifier: CA412195317

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893535G>C (hg19) ; chr22:g.50455106G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455106G>C , CM000684.2:g.50455106G>C	GRCh38
NC_000022.10:g.50893535G>C , CM000684.1:g.50893535G>C	GRCh37
NC_000022.9:g.49240401G>C	NCBI36
NG_041810.1:g.24966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4513C>G	ENSP00000252027.8:p.Gln1505Glu
ENST00000418590.4:c.223C>G	ENSP00000401538.2:p.Gln75Glu
ENST00000470434.2:n.994C>G
ENST00000684986.1:c.4594C>G	ENSP00000509117.1:p.Gln1532Glu
ENST00000685180.1:n.2488+5428C>G
ENST00000685390.1:n.2559C>G
ENST00000685411.1:n.341C>G
ENST00000685592.1:c.825C>G
ENST00000685809.1:c.4504C>G	ENSP00000508863.1:p.Gln1502Glu
ENST00000686029.1:c.669C>G
ENST00000686191.1:n.3791C>G
ENST00000686222.1:c.*4013C>G	ENSP00000508737.1:n.*4013C>G
ENST00000686321.1:c.687C>G
ENST00000686427.1:c.*1526C>G	ENSP00000510379.1:n.*1526C>G
ENST00000686758.1:n.2334C>G
ENST00000686801.1:c.4579C>G	ENSP00000509915.1:p.Gln1527Glu
ENST00000686826.1:n.910C>G
ENST00000687016.1:c.4492C>G	ENSP00000509074.1:p.Gln1498Glu
ENST00000687704.1:c.*2316C>G	ENSP00000510454.1:n.*2316C>G
ENST00000688066.1:c.4591C>G	ENSP00000510782.1:p.Gln1531Glu
ENST00000688124.1:c.*3509C>G	ENSP00000510645.1:n.*3509C>G
ENST00000688848.1:c.*3935C>G	ENSP00000509419.1:n.*3935C>G
ENST00000688985.1:c.1592C>G	ENSP00000510477.1:n.1592C>G
ENST00000689129.1:c.4516C>G	ENSP00000510414.1:p.Gln1506Glu
ENST00000689177.1:n.5863C>G
ENST00000689849.1:c.687C>G
ENST00000689981.1:c.4591C>G	ENSP00000509035.1:p.Gln1531Glu
ENST00000690369.1:n.4609C>G
ENST00000690590.1:n.1638C>G
ENST00000690990.1:c.4585C>G	ENSP00000510461.1:p.Gln1529Glu
ENST00000691233.1:c.4510C>G	ENSP00000509215.1:p.Gln1504Glu
ENST00000691306.1:c.689C>G
ENST00000691345.1:n.2302+1110C>G
ENST00000691792.1:c.4579C>G	ENSP00000509911.1:p.Gln1527Glu
ENST00000691959.1:n.5310C>G
ENST00000692844.1:n.1675C>G
ENST00000692946.1:c.687C>G
ENST00000693052.1:c.4609C>G	ENSP00000509558.1:p.Gln1537Glu
ENST00000693289.1:n.1750C>G
ENST00000693440.1:c.4588C>G	ENSP00000509462.1:p.Gln1530Glu
ENST00000693499.1:n.5516C>G
ENST00000693591.1:n.3328C>G
ENST00000380817.8:c.4591C>G MANE Select	ENSP00000370196.2:p.Gln1531Glu
ENST00000348911.10:c.4516C>G	ENSP00000252027.7:p.Gln1506Glu
ENST00000380817.7:c.4591C>G	ENSP00000370196.2:p.Gln1531Glu
ENST00000418590.3:c.191C>G
ENST00000470434.1:n.732C>G
NM_002972.3:c.4591C>G	NP_002963.2:p.Gln1531Glu
XM_005261931.1:c.4594C>G	XP_005261988.1:p.Gln1532Glu
XM_005261935.1:c.4513C>G	XP_005261992.1:p.Gln1505Glu
XM_011530707.1:c.4693C>G	XP_011529009.1:p.Gln1565Glu
XM_011530708.1:c.4645C>G	XP_011529010.1:p.Gln1549Glu
XM_011530709.1:c.4621C>G	XP_011529011.1:p.Gln1541Glu
XM_011530710.1:c.4618C>G	XP_011529012.1:p.Gln1540Glu
XM_011530711.1:c.4618C>G	XP_011529013.1:p.Gln1540Glu
XR_938344.1:n.4711C>G
NM_001365819.1:c.4516C>G	NP_001352748.1:p.Gln1506Glu
XM_005261935.2:c.4513C>G	XP_005261992.1:p.Gln1505Glu
XM_011530709.2:c.4621C>G	XP_011529011.1:p.Gln1541Glu
XM_011530710.2:c.4618C>G	XP_011529012.1:p.Gln1540Glu
XM_017028905.2:c.4543C>G	XP_016884394.1:p.Gln1515Glu
NM_002972.4:c.4591C>G MANE Select	NP_002963.2:p.Gln1531Glu