Canonical Allele Identifier: CA325528092

Gene: SBF1

Linked Data

• dbSNP Id: rs539944990
• gnomAD v2: 22-50893529-A-G
• gnomAD v3: 22-50455100-A-G
• gnomAD v4: 22-50455100-A-G
• MyVariant Identifiers: chr22:g.50893529A>G (hg19) ; chr22:g.50455100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455100A>G , CM000684.2:g.50455100A>G	GRCh38
NC_000022.10:g.50893529A>G , CM000684.1:g.50893529A>G	GRCh37
NC_000022.9:g.49240395A>G	NCBI36
NG_041810.1:g.24972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4519T>C	ENSP00000252027.8:p.Tyr1507His
ENST00000418590.4:c.229T>C	ENSP00000401538.2:p.Tyr77His
ENST00000470434.2:n.1000T>C
ENST00000684986.1:c.4600T>C	ENSP00000509117.1:p.Tyr1534His
ENST00000685180.1:n.2488+5434T>C
ENST00000685390.1:n.2565T>C
ENST00000685411.1:n.347T>C
ENST00000685592.1:c.831T>C
ENST00000685809.1:c.4510T>C	ENSP00000508863.1:p.Tyr1504His
ENST00000686029.1:c.675T>C
ENST00000686191.1:n.3797T>C
ENST00000686222.1:c.*4019T>C	ENSP00000508737.1:n.*4019T>C
ENST00000686321.1:c.693T>C
ENST00000686427.1:c.*1532T>C	ENSP00000510379.1:n.*1532T>C
ENST00000686758.1:n.2340T>C
ENST00000686801.1:c.4585T>C	ENSP00000509915.1:p.Tyr1529His
ENST00000686826.1:n.916T>C
ENST00000687016.1:c.4498T>C	ENSP00000509074.1:p.Tyr1500His
ENST00000687704.1:c.*2322T>C	ENSP00000510454.1:n.*2322T>C
ENST00000688066.1:c.4597T>C	ENSP00000510782.1:p.Tyr1533His
ENST00000688124.1:c.*3515T>C	ENSP00000510645.1:n.*3515T>C
ENST00000688848.1:c.*3941T>C	ENSP00000509419.1:n.*3941T>C
ENST00000688985.1:c.1598T>C	ENSP00000510477.1:n.1598T>C
ENST00000689129.1:c.4522T>C	ENSP00000510414.1:p.Tyr1508His
ENST00000689177.1:n.5869T>C
ENST00000689849.1:c.693T>C
ENST00000689981.1:c.4597T>C	ENSP00000509035.1:p.Tyr1533His
ENST00000690369.1:n.4615T>C
ENST00000690590.1:n.1644T>C
ENST00000690990.1:c.4591T>C	ENSP00000510461.1:p.Tyr1531His
ENST00000691233.1:c.4516T>C	ENSP00000509215.1:p.Tyr1506His
ENST00000691306.1:c.695T>C
ENST00000691345.1:n.2302+1116T>C
ENST00000691792.1:c.4585T>C	ENSP00000509911.1:p.Tyr1529His
ENST00000691959.1:n.5316T>C
ENST00000692844.1:n.1681T>C
ENST00000692946.1:c.693T>C
ENST00000693052.1:c.4615T>C	ENSP00000509558.1:p.Tyr1539His
ENST00000693289.1:n.1756T>C
ENST00000693440.1:c.4594T>C	ENSP00000509462.1:p.Tyr1532His
ENST00000693499.1:n.5522T>C
ENST00000693591.1:n.3334T>C
ENST00000380817.8:c.4597T>C MANE Select	ENSP00000370196.2:p.Tyr1533His
ENST00000348911.10:c.4522T>C	ENSP00000252027.7:p.Tyr1508His
ENST00000380817.7:c.4597T>C	ENSP00000370196.2:p.Tyr1533His
ENST00000418590.3:c.197T>C
ENST00000470434.1:n.738T>C
NM_002972.3:c.4597T>C	NP_002963.2:p.Tyr1533His
XM_005261931.1:c.4600T>C	XP_005261988.1:p.Tyr1534His
XM_005261935.1:c.4519T>C	XP_005261992.1:p.Tyr1507His
XM_011530707.1:c.4699T>C	XP_011529009.1:p.Tyr1567His
XM_011530708.1:c.4651T>C	XP_011529010.1:p.Tyr1551His
XM_011530709.1:c.4627T>C	XP_011529011.1:p.Tyr1543His
XM_011530710.1:c.4624T>C	XP_011529012.1:p.Tyr1542His
XM_011530711.1:c.4624T>C	XP_011529013.1:p.Tyr1542His
XR_938344.1:n.4717T>C
NM_001365819.1:c.4522T>C	NP_001352748.1:p.Tyr1508His
XM_005261935.2:c.4519T>C	XP_005261992.1:p.Tyr1507His
XM_011530709.2:c.4627T>C	XP_011529011.1:p.Tyr1543His
XM_011530710.2:c.4624T>C	XP_011529012.1:p.Tyr1542His
XM_017028905.2:c.4549T>C	XP_016884394.1:p.Tyr1517His
NM_002972.4:c.4597T>C MANE Select	NP_002963.2:p.Tyr1533His