Canonical Allele Identifier: CA412194159

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893474A>G (hg19) ; chr22:g.50455045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455045A>G , CM000684.2:g.50455045A>G	GRCh38
NC_000022.10:g.50893474A>G , CM000684.1:g.50893474A>G	GRCh37
NC_000022.9:g.49240340A>G	NCBI36
NG_041810.1:g.25027T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4574T>C	ENSP00000252027.8:p.Leu1525Pro
ENST00000418590.4:c.284T>C	ENSP00000401538.2:p.Leu95Pro
ENST00000470434.2:n.1055T>C
ENST00000684986.1:c.4655T>C	ENSP00000509117.1:p.Leu1552Pro
ENST00000685180.1:n.2488+5489T>C
ENST00000685390.1:n.2620T>C
ENST00000685411.1:n.402T>C
ENST00000685592.1:c.886T>C
ENST00000685809.1:c.4565T>C	ENSP00000508863.1:p.Leu1522Pro
ENST00000686029.1:c.730T>C
ENST00000686191.1:n.3852T>C
ENST00000686222.1:c.*4074T>C	ENSP00000508737.1:n.*4074T>C
ENST00000686321.1:c.748T>C
ENST00000686427.1:c.*1587T>C	ENSP00000510379.1:n.*1587T>C
ENST00000686758.1:n.2395T>C
ENST00000686801.1:c.4640T>C	ENSP00000509915.1:p.Leu1547Pro
ENST00000686826.1:n.971T>C
ENST00000687016.1:c.4553T>C	ENSP00000509074.1:p.Leu1518Pro
ENST00000687704.1:c.*2377T>C	ENSP00000510454.1:n.*2377T>C
ENST00000688066.1:c.4652T>C	ENSP00000510782.1:p.Leu1551Pro
ENST00000688124.1:c.*3570T>C	ENSP00000510645.1:n.*3570T>C
ENST00000688848.1:c.*3996T>C	ENSP00000509419.1:n.*3996T>C
ENST00000688985.1:c.1653T>C	ENSP00000510477.1:n.1653T>C
ENST00000689129.1:c.4577T>C	ENSP00000510414.1:p.Leu1526Pro
ENST00000689177.1:n.5924T>C
ENST00000689849.1:c.748T>C
ENST00000689981.1:c.4652T>C	ENSP00000509035.1:p.Leu1551Pro
ENST00000690369.1:n.4670T>C
ENST00000690590.1:n.1699T>C
ENST00000690990.1:c.4646T>C	ENSP00000510461.1:p.Leu1549Pro
ENST00000691233.1:c.4571T>C	ENSP00000509215.1:p.Leu1524Pro
ENST00000691306.1:c.750T>C
ENST00000691345.1:n.2302+1171T>C
ENST00000691792.1:c.4640T>C	ENSP00000509911.1:p.Leu1547Pro
ENST00000691959.1:n.5371T>C
ENST00000692844.1:n.1736T>C
ENST00000692946.1:c.748T>C
ENST00000693052.1:c.4670T>C	ENSP00000509558.1:p.Leu1557Pro
ENST00000693289.1:n.1811T>C
ENST00000693440.1:c.4649T>C	ENSP00000509462.1:p.Leu1550Pro
ENST00000693499.1:n.5577T>C
ENST00000693591.1:n.3389T>C
ENST00000380817.8:c.4652T>C MANE Select	ENSP00000370196.2:p.Leu1551Pro
ENST00000348911.10:c.4577T>C	ENSP00000252027.7:p.Leu1526Pro
ENST00000380817.7:c.4652T>C	ENSP00000370196.2:p.Leu1551Pro
ENST00000418590.3:c.252T>C
ENST00000470434.1:n.793T>C
NM_002972.3:c.4652T>C	NP_002963.2:p.Leu1551Pro
XM_005261931.1:c.4655T>C	XP_005261988.1:p.Leu1552Pro
XM_005261935.1:c.4574T>C	XP_005261992.1:p.Leu1525Pro
XM_011530707.1:c.4754T>C	XP_011529009.1:p.Leu1585Pro
XM_011530708.1:c.4706T>C	XP_011529010.1:p.Leu1569Pro
XM_011530709.1:c.4682T>C	XP_011529011.1:p.Leu1561Pro
XM_011530710.1:c.4679T>C	XP_011529012.1:p.Leu1560Pro
XM_011530711.1:c.4679T>C	XP_011529013.1:p.Leu1560Pro
XR_938344.1:n.4772T>C
NM_001365819.1:c.4577T>C	NP_001352748.1:p.Leu1526Pro
XM_005261935.2:c.4574T>C	XP_005261992.1:p.Leu1525Pro
XM_011530709.2:c.4682T>C	XP_011529011.1:p.Leu1561Pro
XM_011530710.2:c.4679T>C	XP_011529012.1:p.Leu1560Pro
XM_017028905.2:c.4604T>C	XP_016884394.1:p.Leu1535Pro
NM_002972.4:c.4652T>C MANE Select	NP_002963.2:p.Leu1551Pro