Canonical Allele Identifier: CA412193224

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893308C>G (hg19) ; chr22:g.50454879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454879C>G , CM000684.2:g.50454879C>G	GRCh38
NC_000022.10:g.50893308C>G , CM000684.1:g.50893308C>G	GRCh37
NC_000022.9:g.49240174C>G	NCBI36
NG_041810.1:g.25193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4669G>C	ENSP00000252027.8:p.Val1557Leu
ENST00000418590.4:c.379G>C	ENSP00000401538.2:p.Val127Leu
ENST00000470434.2:n.1150G>C
ENST00000684986.1:c.4750G>C	ENSP00000509117.1:p.Val1584Leu
ENST00000685180.1:n.2488+5655G>C
ENST00000685390.1:n.2715G>C
ENST00000685411.1:n.497G>C
ENST00000685592.1:c.981G>C
ENST00000685809.1:c.4660G>C	ENSP00000508863.1:p.Val1554Leu
ENST00000686029.1:c.825G>C
ENST00000686191.1:n.3947G>C
ENST00000686222.1:c.*4169G>C	ENSP00000508737.1:n.*4169G>C
ENST00000686321.1:c.843G>C
ENST00000686427.1:c.*1682G>C	ENSP00000510379.1:n.*1682G>C
ENST00000686758.1:n.2561G>C
ENST00000686801.1:c.4735G>C	ENSP00000509915.1:p.Val1579Leu
ENST00000686826.1:n.1066G>C
ENST00000687016.1:c.4648G>C	ENSP00000509074.1:p.Val1550Leu
ENST00000687704.1:c.*2472G>C	ENSP00000510454.1:n.*2472G>C
ENST00000688066.1:c.4747G>C	ENSP00000510782.1:p.Val1583Leu
ENST00000688124.1:c.*3665G>C	ENSP00000510645.1:n.*3665G>C
ENST00000688848.1:c.*4091G>C	ENSP00000509419.1:n.*4091G>C
ENST00000688985.1:c.1748G>C	ENSP00000510477.1:n.1748G>C
ENST00000689129.1:c.4672G>C	ENSP00000510414.1:p.Val1558Leu
ENST00000689177.1:n.6019G>C
ENST00000689849.1:c.843G>C
ENST00000689981.1:c.4747G>C	ENSP00000509035.1:p.Val1583Leu
ENST00000690369.1:n.4765G>C
ENST00000690590.1:n.1794G>C
ENST00000690990.1:c.4741G>C	ENSP00000510461.1:p.Val1581Leu
ENST00000691233.1:c.4666G>C	ENSP00000509215.1:p.Val1556Leu
ENST00000691306.1:c.828G>C
ENST00000691345.1:n.2302+1337G>C
ENST00000691792.1:c.4735G>C	ENSP00000509911.1:p.Val1579Leu
ENST00000691959.1:n.5466G>C
ENST00000692844.1:n.1831G>C
ENST00000692946.1:c.843G>C
ENST00000693052.1:c.4765G>C	ENSP00000509558.1:p.Val1589Leu
ENST00000693289.1:n.1906G>C
ENST00000693440.1:c.4744G>C	ENSP00000509462.1:p.Val1582Leu
ENST00000693499.1:n.5743G>C
ENST00000693591.1:n.3555G>C
ENST00000380817.8:c.4747G>C MANE Select	ENSP00000370196.2:p.Val1583Leu
ENST00000348911.10:c.4672G>C	ENSP00000252027.7:p.Val1558Leu
ENST00000380817.7:c.4747G>C	ENSP00000370196.2:p.Val1583Leu
ENST00000418590.3:c.347G>C
ENST00000470434.1:n.888G>C
NM_002972.3:c.4747G>C	NP_002963.2:p.Val1583Leu
XM_005261931.1:c.4750G>C	XP_005261988.1:p.Val1584Leu
XM_005261935.1:c.4669G>C	XP_005261992.1:p.Val1557Leu
XM_011530707.1:c.4849G>C	XP_011529009.1:p.Val1617Leu
XM_011530708.1:c.4801G>C	XP_011529010.1:p.Val1601Leu
XM_011530709.1:c.4777G>C	XP_011529011.1:p.Val1593Leu
XM_011530710.1:c.4774G>C	XP_011529012.1:p.Val1592Leu
XM_011530711.1:c.4774G>C	XP_011529013.1:p.Val1592Leu
XR_938344.1:n.4867G>C
NM_001365819.1:c.4672G>C	NP_001352748.1:p.Val1558Leu
XM_005261935.2:c.4669G>C	XP_005261992.1:p.Val1557Leu
XM_011530709.2:c.4777G>C	XP_011529011.1:p.Val1593Leu
XM_011530710.2:c.4774G>C	XP_011529012.1:p.Val1592Leu
XM_017028905.2:c.4699G>C	XP_016884394.1:p.Val1567Leu
NM_002972.4:c.4747G>C MANE Select	NP_002963.2:p.Val1583Leu