Canonical Allele Identifier: CA10316196

Gene: SBF1

Linked Data

• dbSNP Id: rs775384257
• ExAC: 22:50893525 A / G
• gnomAD v2: 22-50893525-A-G
• MyVariant Identifiers: chr22:g.50893525A>G (hg19) ; chr22:g.50455096A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455096A>G , CM000684.2:g.50455096A>G	GRCh38
NC_000022.10:g.50893525A>G , CM000684.1:g.50893525A>G	GRCh37
NC_000022.9:g.49240391A>G	NCBI36
NG_041810.1:g.24976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4523T>C	ENSP00000252027.8:p.Leu1508Pro
ENST00000418590.4:c.233T>C	ENSP00000401538.2:p.Leu78Pro
ENST00000470434.2:n.1004T>C
ENST00000684986.1:c.4604T>C	ENSP00000509117.1:p.Leu1535Pro
ENST00000685180.1:n.2488+5438T>C
ENST00000685390.1:n.2569T>C
ENST00000685411.1:n.351T>C
ENST00000685592.1:c.835T>C
ENST00000685809.1:c.4514T>C	ENSP00000508863.1:p.Leu1505Pro
ENST00000686029.1:c.679T>C
ENST00000686191.1:n.3801T>C
ENST00000686222.1:c.*4023T>C	ENSP00000508737.1:n.*4023T>C
ENST00000686321.1:c.697T>C
ENST00000686427.1:c.*1536T>C	ENSP00000510379.1:n.*1536T>C
ENST00000686758.1:n.2344T>C
ENST00000686801.1:c.4589T>C	ENSP00000509915.1:p.Leu1530Pro
ENST00000686826.1:n.920T>C
ENST00000687016.1:c.4502T>C	ENSP00000509074.1:p.Leu1501Pro
ENST00000687704.1:c.*2326T>C	ENSP00000510454.1:n.*2326T>C
ENST00000688066.1:c.4601T>C	ENSP00000510782.1:p.Leu1534Pro
ENST00000688124.1:c.*3519T>C	ENSP00000510645.1:n.*3519T>C
ENST00000688848.1:c.*3945T>C	ENSP00000509419.1:n.*3945T>C
ENST00000688985.1:c.1602T>C	ENSP00000510477.1:n.1602T>C
ENST00000689129.1:c.4526T>C	ENSP00000510414.1:p.Leu1509Pro
ENST00000689177.1:n.5873T>C
ENST00000689849.1:c.697T>C
ENST00000689981.1:c.4601T>C	ENSP00000509035.1:p.Leu1534Pro
ENST00000690369.1:n.4619T>C
ENST00000690590.1:n.1648T>C
ENST00000690990.1:c.4595T>C	ENSP00000510461.1:p.Leu1532Pro
ENST00000691233.1:c.4520T>C	ENSP00000509215.1:p.Leu1507Pro
ENST00000691306.1:c.699T>C
ENST00000691345.1:n.2302+1120T>C
ENST00000691792.1:c.4589T>C	ENSP00000509911.1:p.Leu1530Pro
ENST00000691959.1:n.5320T>C
ENST00000692844.1:n.1685T>C
ENST00000692946.1:c.697T>C
ENST00000693052.1:c.4619T>C	ENSP00000509558.1:p.Leu1540Pro
ENST00000693289.1:n.1760T>C
ENST00000693440.1:c.4598T>C	ENSP00000509462.1:p.Leu1533Pro
ENST00000693499.1:n.5526T>C
ENST00000693591.1:n.3338T>C
ENST00000380817.8:c.4601T>C MANE Select	ENSP00000370196.2:p.Leu1534Pro
ENST00000348911.10:c.4526T>C	ENSP00000252027.7:p.Leu1509Pro
ENST00000380817.7:c.4601T>C	ENSP00000370196.2:p.Leu1534Pro
ENST00000418590.3:c.201T>C
ENST00000470434.1:n.742T>C
NM_002972.3:c.4601T>C	NP_002963.2:p.Leu1534Pro
XM_005261931.1:c.4604T>C	XP_005261988.1:p.Leu1535Pro
XM_005261935.1:c.4523T>C	XP_005261992.1:p.Leu1508Pro
XM_011530707.1:c.4703T>C	XP_011529009.1:p.Leu1568Pro
XM_011530708.1:c.4655T>C	XP_011529010.1:p.Leu1552Pro
XM_011530709.1:c.4631T>C	XP_011529011.1:p.Leu1544Pro
XM_011530710.1:c.4628T>C	XP_011529012.1:p.Leu1543Pro
XM_011530711.1:c.4628T>C	XP_011529013.1:p.Leu1543Pro
XR_938344.1:n.4721T>C
NM_001365819.1:c.4526T>C	NP_001352748.1:p.Leu1509Pro
XM_005261935.2:c.4523T>C	XP_005261992.1:p.Leu1508Pro
XM_011530709.2:c.4631T>C	XP_011529011.1:p.Leu1544Pro
XM_011530710.2:c.4628T>C	XP_011529012.1:p.Leu1543Pro
XM_017028905.2:c.4553T>C	XP_016884394.1:p.Leu1518Pro
NM_002972.4:c.4601T>C MANE Select	NP_002963.2:p.Leu1534Pro