Canonical Allele Identifier: CA412194148

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893472C>G (hg19) ; chr22:g.50455043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455043C>G , CM000684.2:g.50455043C>G	GRCh38
NC_000022.10:g.50893472C>G , CM000684.1:g.50893472C>G	GRCh37
NC_000022.9:g.49240338C>G	NCBI36
NG_041810.1:g.25029G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4576G>C	ENSP00000252027.8:p.Asp1526His
ENST00000418590.4:c.286G>C	ENSP00000401538.2:p.Asp96His
ENST00000470434.2:n.1057G>C
ENST00000684986.1:c.4657G>C	ENSP00000509117.1:p.Asp1553His
ENST00000685180.1:n.2488+5491G>C
ENST00000685390.1:n.2622G>C
ENST00000685411.1:n.404G>C
ENST00000685592.1:c.888G>C
ENST00000685809.1:c.4567G>C	ENSP00000508863.1:p.Asp1523His
ENST00000686029.1:c.732G>C
ENST00000686191.1:n.3854G>C
ENST00000686222.1:c.*4076G>C	ENSP00000508737.1:n.*4076G>C
ENST00000686321.1:c.750G>C
ENST00000686427.1:c.*1589G>C	ENSP00000510379.1:n.*1589G>C
ENST00000686758.1:n.2397G>C
ENST00000686801.1:c.4642G>C	ENSP00000509915.1:p.Asp1548His
ENST00000686826.1:n.973G>C
ENST00000687016.1:c.4555G>C	ENSP00000509074.1:p.Asp1519His
ENST00000687704.1:c.*2379G>C	ENSP00000510454.1:n.*2379G>C
ENST00000688066.1:c.4654G>C	ENSP00000510782.1:p.Asp1552His
ENST00000688124.1:c.*3572G>C	ENSP00000510645.1:n.*3572G>C
ENST00000688848.1:c.*3998G>C	ENSP00000509419.1:n.*3998G>C
ENST00000688985.1:c.1655G>C	ENSP00000510477.1:n.1655G>C
ENST00000689129.1:c.4579G>C	ENSP00000510414.1:p.Asp1527His
ENST00000689177.1:n.5926G>C
ENST00000689849.1:c.750G>C
ENST00000689981.1:c.4654G>C	ENSP00000509035.1:p.Asp1552His
ENST00000690369.1:n.4672G>C
ENST00000690590.1:n.1701G>C
ENST00000690990.1:c.4648G>C	ENSP00000510461.1:p.Asp1550His
ENST00000691233.1:c.4573G>C	ENSP00000509215.1:p.Asp1525His
ENST00000691306.1:c.752G>C
ENST00000691345.1:n.2302+1173G>C
ENST00000691792.1:c.4642G>C	ENSP00000509911.1:p.Asp1548His
ENST00000691959.1:n.5373G>C
ENST00000692844.1:n.1738G>C
ENST00000692946.1:c.750G>C
ENST00000693052.1:c.4672G>C	ENSP00000509558.1:p.Asp1558His
ENST00000693289.1:n.1813G>C
ENST00000693440.1:c.4651G>C	ENSP00000509462.1:p.Asp1551His
ENST00000693499.1:n.5579G>C
ENST00000693591.1:n.3391G>C
ENST00000380817.8:c.4654G>C MANE Select	ENSP00000370196.2:p.Asp1552His
ENST00000348911.10:c.4579G>C	ENSP00000252027.7:p.Asp1527His
ENST00000380817.7:c.4654G>C	ENSP00000370196.2:p.Asp1552His
ENST00000418590.3:c.254G>C
ENST00000470434.1:n.795G>C
NM_002972.3:c.4654G>C	NP_002963.2:p.Asp1552His
XM_005261931.1:c.4657G>C	XP_005261988.1:p.Asp1553His
XM_005261935.1:c.4576G>C	XP_005261992.1:p.Asp1526His
XM_011530707.1:c.4756G>C	XP_011529009.1:p.Asp1586His
XM_011530708.1:c.4708G>C	XP_011529010.1:p.Asp1570His
XM_011530709.1:c.4684G>C	XP_011529011.1:p.Asp1562His
XM_011530710.1:c.4681G>C	XP_011529012.1:p.Asp1561His
XM_011530711.1:c.4681G>C	XP_011529013.1:p.Asp1561His
XR_938344.1:n.4774G>C
NM_001365819.1:c.4579G>C	NP_001352748.1:p.Asp1527His
XM_005261935.2:c.4576G>C	XP_005261992.1:p.Asp1526His
XM_011530709.2:c.4684G>C	XP_011529011.1:p.Asp1562His
XM_011530710.2:c.4681G>C	XP_011529012.1:p.Asp1561His
XM_017028905.2:c.4606G>C	XP_016884394.1:p.Asp1536His
NM_002972.4:c.4654G>C MANE Select	NP_002963.2:p.Asp1552His