Canonical Allele Identifier: CA10316194

Gene: SBF1

Linked Data

• ClinVar Variation Id: 2975962
• ClinVar RCV Id: RCV003834048
• dbSNP Id: rs745827632
• ExAC: 22:50893515 G / A
• gnomAD v2: 22-50893515-G-A
• gnomAD v4: 22-50455086-G-A
• COSMIC: COSM445175 ; COSM1134180
• MyVariant Identifiers: chr22:g.50893515G>A (hg19) ; chr22:g.50455086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455086G>A , CM000684.2:g.50455086G>A	GRCh38
NC_000022.10:g.50893515G>A , CM000684.1:g.50893515G>A	GRCh37
NC_000022.9:g.49240381G>A	NCBI36
NG_041810.1:g.24986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4533C>T	ENSP00000252027.8:p.Leu1511=
ENST00000418590.4:c.243C>T	ENSP00000401538.2:p.Leu81=
ENST00000470434.2:n.1014C>T
ENST00000684986.1:c.4614C>T	ENSP00000509117.1:p.Leu1538=
ENST00000685180.1:n.2488+5448C>T
ENST00000685390.1:n.2579C>T
ENST00000685411.1:n.361C>T
ENST00000685592.1:c.845C>T
ENST00000685809.1:c.4524C>T	ENSP00000508863.1:p.Leu1508=
ENST00000686029.1:c.689C>T
ENST00000686191.1:n.3811C>T
ENST00000686222.1:c.*4033C>T	ENSP00000508737.1:n.*4033C>T
ENST00000686321.1:c.707C>T
ENST00000686427.1:c.*1546C>T	ENSP00000510379.1:n.*1546C>T
ENST00000686758.1:n.2354C>T
ENST00000686801.1:c.4599C>T	ENSP00000509915.1:p.Leu1533=
ENST00000686826.1:n.930C>T
ENST00000687016.1:c.4512C>T	ENSP00000509074.1:p.Leu1504=
ENST00000687704.1:c.*2336C>T	ENSP00000510454.1:n.*2336C>T
ENST00000688066.1:c.4611C>T	ENSP00000510782.1:p.Leu1537=
ENST00000688124.1:c.*3529C>T	ENSP00000510645.1:n.*3529C>T
ENST00000688848.1:c.*3955C>T	ENSP00000509419.1:n.*3955C>T
ENST00000688985.1:c.1612C>T	ENSP00000510477.1:n.1612C>T
ENST00000689129.1:c.4536C>T	ENSP00000510414.1:p.Leu1512=
ENST00000689177.1:n.5883C>T
ENST00000689849.1:c.707C>T
ENST00000689981.1:c.4611C>T	ENSP00000509035.1:p.Leu1537=
ENST00000690369.1:n.4629C>T
ENST00000690590.1:n.1658C>T
ENST00000690990.1:c.4605C>T	ENSP00000510461.1:p.Leu1535=
ENST00000691233.1:c.4530C>T	ENSP00000509215.1:p.Leu1510=
ENST00000691306.1:c.709C>T
ENST00000691345.1:n.2302+1130C>T
ENST00000691792.1:c.4599C>T	ENSP00000509911.1:p.Leu1533=
ENST00000691959.1:n.5330C>T
ENST00000692844.1:n.1695C>T
ENST00000692946.1:c.707C>T
ENST00000693052.1:c.4629C>T	ENSP00000509558.1:p.Leu1543=
ENST00000693289.1:n.1770C>T
ENST00000693440.1:c.4608C>T	ENSP00000509462.1:p.Leu1536=
ENST00000693499.1:n.5536C>T
ENST00000693591.1:n.3348C>T
ENST00000380817.8:c.4611C>T MANE Select	ENSP00000370196.2:p.Leu1537=
ENST00000348911.10:c.4536C>T	ENSP00000252027.7:p.Leu1512=
ENST00000380817.7:c.4611C>T	ENSP00000370196.2:p.Leu1537=
ENST00000418590.3:c.211C>T
ENST00000470434.1:n.752C>T
NM_002972.3:c.4611C>T	NP_002963.2:p.Leu1537=
XM_005261931.1:c.4614C>T	XP_005261988.1:p.Leu1538=
XM_005261935.1:c.4533C>T	XP_005261992.1:p.Leu1511=
XM_011530707.1:c.4713C>T	XP_011529009.1:p.Leu1571=
XM_011530708.1:c.4665C>T	XP_011529010.1:p.Leu1555=
XM_011530709.1:c.4641C>T	XP_011529011.1:p.Leu1547=
XM_011530710.1:c.4638C>T	XP_011529012.1:p.Leu1546=
XM_011530711.1:c.4638C>T	XP_011529013.1:p.Leu1546=
XR_938344.1:n.4731C>T
NM_001365819.1:c.4536C>T	NP_001352748.1:p.Leu1512=
XM_005261935.2:c.4533C>T	XP_005261992.1:p.Leu1511=
XM_011530709.2:c.4641C>T	XP_011529011.1:p.Leu1547=
XM_011530710.2:c.4638C>T	XP_011529012.1:p.Leu1546=
XM_017028905.2:c.4563C>T	XP_016884394.1:p.Leu1521=
NM_002972.4:c.4611C>T MANE Select	NP_002963.2:p.Leu1537=