Canonical Allele Identifier: CA412192775

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893171C>A (hg19) ; chr22:g.50454742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454742C>A , CM000684.2:g.50454742C>A	GRCh38
NC_000022.10:g.50893171C>A , CM000684.1:g.50893171C>A	GRCh37
NC_000022.9:g.49240037C>A	NCBI36
NG_041810.1:g.25330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4735G>T	ENSP00000252027.8:p.Val1579Phe
ENST00000418590.4:c.445-36G>T	ENSP00000401538.2:n.445-36G>T
ENST00000470434.2:n.1216G>T
ENST00000684986.1:c.4816G>T	ENSP00000509117.1:p.Val1606Phe
ENST00000685180.1:n.2488+5792G>T
ENST00000685390.1:n.2781-17G>T
ENST00000685411.1:n.563G>T
ENST00000685592.1:c.1047G>T
ENST00000685809.1:c.4726G>T	ENSP00000508863.1:p.Val1576Phe
ENST00000686191.1:n.4013G>T
ENST00000686222.1:c.*4235G>T	ENSP00000508737.1:n.*4235G>T
ENST00000686321.1:c.909G>T
ENST00000686427.1:c.*1748G>T	ENSP00000510379.1:n.*1748G>T
ENST00000686758.1:n.2627G>T
ENST00000686801.1:c.4801G>T	ENSP00000509915.1:p.Val1601Phe
ENST00000686826.1:n.1132G>T
ENST00000687016.1:c.4714G>T	ENSP00000509074.1:p.Val1572Phe
ENST00000687704.1:c.*2609G>T	ENSP00000510454.1:n.*2609G>T
ENST00000688066.1:c.4813G>T	ENSP00000510782.1:p.Val1605Phe
ENST00000688124.1:c.*3731-17G>T	ENSP00000510645.1:n.*3731-17G>T
ENST00000688848.1:c.*4157G>T	ENSP00000509419.1:n.*4157G>T
ENST00000688985.1:c.1814G>T	ENSP00000510477.1:n.1814G>T
ENST00000689129.1:c.4738G>T	ENSP00000510414.1:p.Val1580Phe
ENST00000689177.1:n.6085G>T
ENST00000689849.1:c.909G>T
ENST00000689981.1:c.4813G>T	ENSP00000509035.1:p.Val1605Phe
ENST00000690369.1:n.4831G>T
ENST00000690590.1:n.1860G>T
ENST00000690990.1:c.4807G>T	ENSP00000510461.1:p.Val1603Phe
ENST00000691233.1:c.4732G>T	ENSP00000509215.1:p.Val1578Phe
ENST00000691306.1:c.894G>T
ENST00000691345.1:n.2302+1474G>T
ENST00000691792.1:c.4801G>T	ENSP00000509911.1:p.Val1601Phe
ENST00000691959.1:n.5532G>T
ENST00000692844.1:n.1897G>T
ENST00000692946.1:c.909G>T
ENST00000693052.1:c.4831G>T	ENSP00000509558.1:p.Val1611Phe
ENST00000693289.1:n.1972G>T
ENST00000693440.1:c.4810G>T	ENSP00000509462.1:p.Val1604Phe
ENST00000693499.1:n.5809G>T
ENST00000693591.1:n.3621G>T
ENST00000380817.8:c.4813G>T MANE Select	ENSP00000370196.2:p.Val1605Phe
ENST00000348911.10:c.4738G>T	ENSP00000252027.7:p.Val1580Phe
ENST00000380817.7:c.4813G>T	ENSP00000370196.2:p.Val1605Phe
ENST00000418590.3:c.413-36G>T
ENST00000470434.1:n.954G>T
NM_002972.3:c.4813G>T	NP_002963.2:p.Val1605Phe
XM_005261931.1:c.4816G>T	XP_005261988.1:p.Val1606Phe
XM_005261935.1:c.4735G>T	XP_005261992.1:p.Val1579Phe
XM_011530707.1:c.4915G>T	XP_011529009.1:p.Val1639Phe
XM_011530708.1:c.4867G>T	XP_011529010.1:p.Val1623Phe
XM_011530709.1:c.4843G>T	XP_011529011.1:p.Val1615Phe
XM_011530710.1:c.4840G>T	XP_011529012.1:p.Val1614Phe
XM_011530711.1:c.4840G>T	XP_011529013.1:p.Val1614Phe
XR_938344.1:n.4933G>T
NM_001365819.1:c.4738G>T	NP_001352748.1:p.Val1580Phe
XM_005261935.2:c.4735G>T	XP_005261992.1:p.Val1579Phe
XM_011530709.2:c.4843G>T	XP_011529011.1:p.Val1615Phe
XM_011530710.2:c.4840G>T	XP_011529012.1:p.Val1614Phe
XM_017028905.2:c.4765G>T	XP_016884394.1:p.Val1589Phe
NM_002972.4:c.4813G>T MANE Select	NP_002963.2:p.Val1605Phe