Canonical Allele Identifier: CA515382903

Gene: SBF1

Linked Data

• dbSNP Id: rs1480503878
• gnomAD v2: 22-50893518-G-A
• gnomAD v4: 22-50455089-G-A
• MyVariant Identifiers: chr22:g.50893518G>A (hg19) ; chr22:g.50455089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455089G>A , CM000684.2:g.50455089G>A	GRCh38
NC_000022.10:g.50893518G>A , CM000684.1:g.50893518G>A	GRCh37
NC_000022.9:g.49240384G>A	NCBI36
NG_041810.1:g.24983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4530C>T	ENSP00000252027.8:p.Phe1510=
ENST00000418590.4:c.240C>T	ENSP00000401538.2:p.Phe80=
ENST00000470434.2:n.1011C>T
ENST00000684986.1:c.4611C>T	ENSP00000509117.1:p.Phe1537=
ENST00000685180.1:n.2488+5445C>T
ENST00000685390.1:n.2576C>T
ENST00000685411.1:n.358C>T
ENST00000685592.1:c.842C>T
ENST00000685809.1:c.4521C>T	ENSP00000508863.1:p.Phe1507=
ENST00000686029.1:c.686C>T
ENST00000686191.1:n.3808C>T
ENST00000686222.1:c.*4030C>T	ENSP00000508737.1:n.*4030C>T
ENST00000686321.1:c.704C>T
ENST00000686427.1:c.*1543C>T	ENSP00000510379.1:n.*1543C>T
ENST00000686758.1:n.2351C>T
ENST00000686801.1:c.4596C>T	ENSP00000509915.1:p.Phe1532=
ENST00000686826.1:n.927C>T
ENST00000687016.1:c.4509C>T	ENSP00000509074.1:p.Phe1503=
ENST00000687704.1:c.*2333C>T	ENSP00000510454.1:n.*2333C>T
ENST00000688066.1:c.4608C>T	ENSP00000510782.1:p.Phe1536=
ENST00000688124.1:c.*3526C>T	ENSP00000510645.1:n.*3526C>T
ENST00000688848.1:c.*3952C>T	ENSP00000509419.1:n.*3952C>T
ENST00000688985.1:c.1609C>T	ENSP00000510477.1:n.1609C>T
ENST00000689129.1:c.4533C>T	ENSP00000510414.1:p.Phe1511=
ENST00000689177.1:n.5880C>T
ENST00000689849.1:c.704C>T
ENST00000689981.1:c.4608C>T	ENSP00000509035.1:p.Phe1536=
ENST00000690369.1:n.4626C>T
ENST00000690590.1:n.1655C>T
ENST00000690990.1:c.4602C>T	ENSP00000510461.1:p.Phe1534=
ENST00000691233.1:c.4527C>T	ENSP00000509215.1:p.Phe1509=
ENST00000691306.1:c.706C>T
ENST00000691345.1:n.2302+1127C>T
ENST00000691792.1:c.4596C>T	ENSP00000509911.1:p.Phe1532=
ENST00000691959.1:n.5327C>T
ENST00000692844.1:n.1692C>T
ENST00000692946.1:c.704C>T
ENST00000693052.1:c.4626C>T	ENSP00000509558.1:p.Phe1542=
ENST00000693289.1:n.1767C>T
ENST00000693440.1:c.4605C>T	ENSP00000509462.1:p.Phe1535=
ENST00000693499.1:n.5533C>T
ENST00000693591.1:n.3345C>T
ENST00000380817.8:c.4608C>T MANE Select	ENSP00000370196.2:p.Phe1536=
ENST00000348911.10:c.4533C>T	ENSP00000252027.7:p.Phe1511=
ENST00000380817.7:c.4608C>T	ENSP00000370196.2:p.Phe1536=
ENST00000418590.3:c.208C>T
ENST00000470434.1:n.749C>T
NM_002972.3:c.4608C>T	NP_002963.2:p.Phe1536=
XM_005261931.1:c.4611C>T	XP_005261988.1:p.Phe1537=
XM_005261935.1:c.4530C>T	XP_005261992.1:p.Phe1510=
XM_011530707.1:c.4710C>T	XP_011529009.1:p.Phe1570=
XM_011530708.1:c.4662C>T	XP_011529010.1:p.Phe1554=
XM_011530709.1:c.4638C>T	XP_011529011.1:p.Phe1546=
XM_011530710.1:c.4635C>T	XP_011529012.1:p.Phe1545=
XM_011530711.1:c.4635C>T	XP_011529013.1:p.Phe1545=
XR_938344.1:n.4728C>T
NM_001365819.1:c.4533C>T	NP_001352748.1:p.Phe1511=
XM_005261935.2:c.4530C>T	XP_005261992.1:p.Phe1510=
XM_011530709.2:c.4638C>T	XP_011529011.1:p.Phe1546=
XM_011530710.2:c.4635C>T	XP_011529012.1:p.Phe1545=
XM_017028905.2:c.4560C>T	XP_016884394.1:p.Phe1520=
NM_002972.4:c.4608C>T MANE Select	NP_002963.2:p.Phe1536=