Canonical Allele Identifier: CA515382437

Gene: SBF1

Linked Data

• dbSNP Id: rs763547524
• gnomAD v2: 22-50893569-G-C
• gnomAD v4: 22-50455140-G-C
• MyVariant Identifiers: chr22:g.50893569G>C (hg19) ; chr22:g.50455140G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455140G>C , CM000684.2:g.50455140G>C	GRCh38
NC_000022.10:g.50893569G>C , CM000684.1:g.50893569G>C	GRCh37
NC_000022.9:g.49240435G>C	NCBI36
NG_041810.1:g.24932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4479C>G	ENSP00000252027.8:p.Val1493=
ENST00000418590.4:c.189C>G	ENSP00000401538.2:p.Val63=
ENST00000470434.2:n.960C>G
ENST00000684986.1:c.4560C>G	ENSP00000509117.1:p.Val1520=
ENST00000685180.1:n.2488+5394C>G
ENST00000685390.1:n.2525C>G
ENST00000685411.1:n.307C>G
ENST00000685592.1:c.791C>G
ENST00000685809.1:c.4470C>G	ENSP00000508863.1:p.Val1490=
ENST00000686029.1:c.635C>G
ENST00000686191.1:n.3757C>G
ENST00000686222.1:c.*3979C>G	ENSP00000508737.1:n.*3979C>G
ENST00000686321.1:c.653C>G
ENST00000686427.1:c.*1492C>G	ENSP00000510379.1:n.*1492C>G
ENST00000686758.1:n.2300C>G
ENST00000686801.1:c.4545C>G	ENSP00000509915.1:p.Val1515=
ENST00000686826.1:n.876C>G
ENST00000687016.1:c.4458C>G	ENSP00000509074.1:p.Val1486=
ENST00000687704.1:c.*2282C>G	ENSP00000510454.1:n.*2282C>G
ENST00000688066.1:c.4557C>G	ENSP00000510782.1:p.Val1519=
ENST00000688124.1:c.*3475C>G	ENSP00000510645.1:n.*3475C>G
ENST00000688848.1:c.*3901C>G	ENSP00000509419.1:n.*3901C>G
ENST00000688985.1:c.1558C>G	ENSP00000510477.1:n.1558C>G
ENST00000689129.1:c.4482C>G	ENSP00000510414.1:p.Val1494=
ENST00000689177.1:n.5829C>G
ENST00000689849.1:c.653C>G
ENST00000689981.1:c.4557C>G	ENSP00000509035.1:p.Val1519=
ENST00000690369.1:n.4575C>G
ENST00000690590.1:n.1604C>G
ENST00000690990.1:c.4551C>G	ENSP00000510461.1:p.Val1517=
ENST00000691233.1:c.4476C>G	ENSP00000509215.1:p.Val1492=
ENST00000691306.1:c.655C>G
ENST00000691345.1:n.2302+1076C>G
ENST00000691792.1:c.4555-10C>G	ENSP00000509911.1:n.4555-10C>G
ENST00000691959.1:n.5276C>G
ENST00000692844.1:n.1641C>G
ENST00000692946.1:c.653C>G
ENST00000693052.1:c.4575C>G	ENSP00000509558.1:p.Val1525=
ENST00000693289.1:n.1716C>G
ENST00000693440.1:c.4554C>G	ENSP00000509462.1:p.Val1518=
ENST00000693499.1:n.5482C>G
ENST00000693591.1:n.3294C>G
ENST00000380817.8:c.4557C>G MANE Select	ENSP00000370196.2:p.Val1519=
ENST00000348911.10:c.4482C>G	ENSP00000252027.7:p.Val1494=
ENST00000380817.7:c.4557C>G	ENSP00000370196.2:p.Val1519=
ENST00000418590.3:c.157C>G
ENST00000470434.1:n.698C>G
NM_002972.3:c.4557C>G	NP_002963.2:p.Val1519=
XM_005261931.1:c.4560C>G	XP_005261988.1:p.Val1520=
XM_005261935.1:c.4479C>G	XP_005261992.1:p.Val1493=
XM_011530707.1:c.4659C>G	XP_011529009.1:p.Val1553=
XM_011530708.1:c.4611C>G	XP_011529010.1:p.Val1537=
XM_011530709.1:c.4587C>G	XP_011529011.1:p.Val1529=
XM_011530710.1:c.4584C>G	XP_011529012.1:p.Val1528=
XM_011530711.1:c.4584C>G	XP_011529013.1:p.Val1528=
XR_938344.1:n.4677C>G
NM_001365819.1:c.4482C>G	NP_001352748.1:p.Val1494=
XM_005261935.2:c.4479C>G	XP_005261992.1:p.Val1493=
XM_011530709.2:c.4587C>G	XP_011529011.1:p.Val1529=
XM_011530710.2:c.4584C>G	XP_011529012.1:p.Val1528=
XM_017028905.2:c.4509C>G	XP_016884394.1:p.Val1503=
NM_002972.4:c.4557C>G MANE Select	NP_002963.2:p.Val1519=