Canonical Allele Identifier: CA515382427

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893563C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455134C>A , CM000684.2:g.50455134C>A	GRCh38
NC_000022.10:g.50893563C>A , CM000684.1:g.50893563C>A	GRCh37
NC_000022.9:g.49240429C>A	NCBI36
NG_041810.1:g.24938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4485G>T	ENSP00000252027.8:p.Leu1495=
ENST00000418590.4:c.195G>T	ENSP00000401538.2:p.Leu65=
ENST00000470434.2:n.966G>T
ENST00000684986.1:c.4566G>T	ENSP00000509117.1:p.Leu1522=
ENST00000685180.1:n.2488+5400G>T
ENST00000685390.1:n.2531G>T
ENST00000685411.1:n.313G>T
ENST00000685592.1:c.797G>T
ENST00000685809.1:c.4476G>T	ENSP00000508863.1:p.Leu1492=
ENST00000686029.1:c.641G>T
ENST00000686191.1:n.3763G>T
ENST00000686222.1:c.*3985G>T	ENSP00000508737.1:n.*3985G>T
ENST00000686321.1:c.659G>T
ENST00000686427.1:c.*1498G>T	ENSP00000510379.1:n.*1498G>T
ENST00000686758.1:n.2306G>T
ENST00000686801.1:c.4551G>T	ENSP00000509915.1:p.Leu1517=
ENST00000686826.1:n.882G>T
ENST00000687016.1:c.4464G>T	ENSP00000509074.1:p.Leu1488=
ENST00000687704.1:c.*2288G>T	ENSP00000510454.1:n.*2288G>T
ENST00000688066.1:c.4563G>T	ENSP00000510782.1:p.Leu1521=
ENST00000688124.1:c.*3481G>T	ENSP00000510645.1:n.*3481G>T
ENST00000688848.1:c.*3907G>T	ENSP00000509419.1:n.*3907G>T
ENST00000688985.1:c.1564G>T	ENSP00000510477.1:n.1564G>T
ENST00000689129.1:c.4488G>T	ENSP00000510414.1:p.Leu1496=
ENST00000689177.1:n.5835G>T
ENST00000689849.1:c.659G>T
ENST00000689981.1:c.4563G>T	ENSP00000509035.1:p.Leu1521=
ENST00000690369.1:n.4581G>T
ENST00000690590.1:n.1610G>T
ENST00000690990.1:c.4557G>T	ENSP00000510461.1:p.Leu1519=
ENST00000691233.1:c.4482G>T	ENSP00000509215.1:p.Leu1494=
ENST00000691306.1:c.661G>T
ENST00000691345.1:n.2302+1082G>T
ENST00000691792.1:c.4555-4G>T	ENSP00000509911.1:n.4555-4G>T
ENST00000691959.1:n.5282G>T
ENST00000692844.1:n.1647G>T
ENST00000692946.1:c.659G>T
ENST00000693052.1:c.4581G>T	ENSP00000509558.1:p.Leu1527=
ENST00000693289.1:n.1722G>T
ENST00000693440.1:c.4560G>T	ENSP00000509462.1:p.Leu1520=
ENST00000693499.1:n.5488G>T
ENST00000693591.1:n.3300G>T
ENST00000380817.8:c.4563G>T MANE Select	ENSP00000370196.2:p.Leu1521=
ENST00000348911.10:c.4488G>T	ENSP00000252027.7:p.Leu1496=
ENST00000380817.7:c.4563G>T	ENSP00000370196.2:p.Leu1521=
ENST00000418590.3:c.163G>T
ENST00000470434.1:n.704G>T
NM_002972.3:c.4563G>T	NP_002963.2:p.Leu1521=
XM_005261931.1:c.4566G>T	XP_005261988.1:p.Leu1522=
XM_005261935.1:c.4485G>T	XP_005261992.1:p.Leu1495=
XM_011530707.1:c.4665G>T	XP_011529009.1:p.Leu1555=
XM_011530708.1:c.4617G>T	XP_011529010.1:p.Leu1539=
XM_011530709.1:c.4593G>T	XP_011529011.1:p.Leu1531=
XM_011530710.1:c.4590G>T	XP_011529012.1:p.Leu1530=
XM_011530711.1:c.4590G>T	XP_011529013.1:p.Leu1530=
XR_938344.1:n.4683G>T
NM_001365819.1:c.4488G>T	NP_001352748.1:p.Leu1496=
XM_005261935.2:c.4485G>T	XP_005261992.1:p.Leu1495=
XM_011530709.2:c.4593G>T	XP_011529011.1:p.Leu1531=
XM_011530710.2:c.4590G>T	XP_011529012.1:p.Leu1530=
XM_017028905.2:c.4515G>T	XP_016884394.1:p.Leu1505=
NM_002972.4:c.4563G>T MANE Select	NP_002963.2:p.Leu1521=