Canonical Allele Identifier: CA412195423

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893564A>C (hg19) ; chr22:g.50455135A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455135A>C , CM000684.2:g.50455135A>C	GRCh38
NC_000022.10:g.50893564A>C , CM000684.1:g.50893564A>C	GRCh37
NC_000022.9:g.49240430A>C	NCBI36
NG_041810.1:g.24937T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4484T>G	ENSP00000252027.8:p.Leu1495Arg
ENST00000418590.4:c.194T>G	ENSP00000401538.2:p.Leu65Arg
ENST00000470434.2:n.965T>G
ENST00000684986.1:c.4565T>G	ENSP00000509117.1:p.Leu1522Arg
ENST00000685180.1:n.2488+5399T>G
ENST00000685390.1:n.2530T>G
ENST00000685411.1:n.312T>G
ENST00000685592.1:c.796T>G
ENST00000685809.1:c.4475T>G	ENSP00000508863.1:p.Leu1492Arg
ENST00000686029.1:c.640T>G
ENST00000686191.1:n.3762T>G
ENST00000686222.1:c.*3984T>G	ENSP00000508737.1:n.*3984T>G
ENST00000686321.1:c.658T>G
ENST00000686427.1:c.*1497T>G	ENSP00000510379.1:n.*1497T>G
ENST00000686758.1:n.2305T>G
ENST00000686801.1:c.4550T>G	ENSP00000509915.1:p.Leu1517Arg
ENST00000686826.1:n.881T>G
ENST00000687016.1:c.4463T>G	ENSP00000509074.1:p.Leu1488Arg
ENST00000687704.1:c.*2287T>G	ENSP00000510454.1:n.*2287T>G
ENST00000688066.1:c.4562T>G	ENSP00000510782.1:p.Leu1521Arg
ENST00000688124.1:c.*3480T>G	ENSP00000510645.1:n.*3480T>G
ENST00000688848.1:c.*3906T>G	ENSP00000509419.1:n.*3906T>G
ENST00000688985.1:c.1563T>G	ENSP00000510477.1:n.1563T>G
ENST00000689129.1:c.4487T>G	ENSP00000510414.1:p.Leu1496Arg
ENST00000689177.1:n.5834T>G
ENST00000689849.1:c.658T>G
ENST00000689981.1:c.4562T>G	ENSP00000509035.1:p.Leu1521Arg
ENST00000690369.1:n.4580T>G
ENST00000690590.1:n.1609T>G
ENST00000690990.1:c.4556T>G	ENSP00000510461.1:p.Leu1519Arg
ENST00000691233.1:c.4481T>G	ENSP00000509215.1:p.Leu1494Arg
ENST00000691306.1:c.660T>G
ENST00000691345.1:n.2302+1081T>G
ENST00000691792.1:c.4555-5T>G	ENSP00000509911.1:n.4555-5T>G
ENST00000691959.1:n.5281T>G
ENST00000692844.1:n.1646T>G
ENST00000692946.1:c.658T>G
ENST00000693052.1:c.4580T>G	ENSP00000509558.1:p.Leu1527Arg
ENST00000693289.1:n.1721T>G
ENST00000693440.1:c.4559T>G	ENSP00000509462.1:p.Leu1520Arg
ENST00000693499.1:n.5487T>G
ENST00000693591.1:n.3299T>G
ENST00000380817.8:c.4562T>G MANE Select	ENSP00000370196.2:p.Leu1521Arg
ENST00000348911.10:c.4487T>G	ENSP00000252027.7:p.Leu1496Arg
ENST00000380817.7:c.4562T>G	ENSP00000370196.2:p.Leu1521Arg
ENST00000418590.3:c.162T>G
ENST00000470434.1:n.703T>G
NM_002972.3:c.4562T>G	NP_002963.2:p.Leu1521Arg
XM_005261931.1:c.4565T>G	XP_005261988.1:p.Leu1522Arg
XM_005261935.1:c.4484T>G	XP_005261992.1:p.Leu1495Arg
XM_011530707.1:c.4664T>G	XP_011529009.1:p.Leu1555Arg
XM_011530708.1:c.4616T>G	XP_011529010.1:p.Leu1539Arg
XM_011530709.1:c.4592T>G	XP_011529011.1:p.Leu1531Arg
XM_011530710.1:c.4589T>G	XP_011529012.1:p.Leu1530Arg
XM_011530711.1:c.4589T>G	XP_011529013.1:p.Leu1530Arg
XR_938344.1:n.4682T>G
NM_001365819.1:c.4487T>G	NP_001352748.1:p.Leu1496Arg
XM_005261935.2:c.4484T>G	XP_005261992.1:p.Leu1495Arg
XM_011530709.2:c.4592T>G	XP_011529011.1:p.Leu1531Arg
XM_011530710.2:c.4589T>G	XP_011529012.1:p.Leu1530Arg
XM_017028905.2:c.4514T>G	XP_016884394.1:p.Leu1505Arg
NM_002972.4:c.4562T>G MANE Select	NP_002963.2:p.Leu1521Arg