Canonical Allele Identifier: CA412192764

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893168G>C (hg19) ; chr22:g.50454739G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454739G>C , CM000684.2:g.50454739G>C	GRCh38
NC_000022.10:g.50893168G>C , CM000684.1:g.50893168G>C	GRCh37
NC_000022.9:g.49240034G>C	NCBI36
NG_041810.1:g.25333C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4738C>G	ENSP00000252027.8:p.Leu1580Val
ENST00000418590.4:c.445-33C>G	ENSP00000401538.2:n.445-33C>G
ENST00000470434.2:n.1219C>G
ENST00000684986.1:c.4819C>G	ENSP00000509117.1:p.Leu1607Val
ENST00000685180.1:n.2488+5795C>G
ENST00000685390.1:n.2781-14C>G
ENST00000685411.1:n.566C>G
ENST00000685592.1:c.1050C>G
ENST00000685809.1:c.4729C>G	ENSP00000508863.1:p.Leu1577Val
ENST00000686191.1:n.4016C>G
ENST00000686222.1:c.*4238C>G	ENSP00000508737.1:n.*4238C>G
ENST00000686321.1:c.912C>G
ENST00000686427.1:c.*1751C>G	ENSP00000510379.1:n.*1751C>G
ENST00000686758.1:n.2630C>G
ENST00000686801.1:c.4804C>G	ENSP00000509915.1:p.Leu1602Val
ENST00000686826.1:n.1135C>G
ENST00000687016.1:c.4717C>G	ENSP00000509074.1:p.Leu1573Val
ENST00000687704.1:c.*2612C>G	ENSP00000510454.1:n.*2612C>G
ENST00000688066.1:c.4816C>G	ENSP00000510782.1:p.Leu1606Val
ENST00000688124.1:c.*3731-14C>G	ENSP00000510645.1:n.*3731-14C>G
ENST00000688848.1:c.*4160C>G	ENSP00000509419.1:n.*4160C>G
ENST00000688985.1:c.1817C>G	ENSP00000510477.1:n.1817C>G
ENST00000689129.1:c.4741C>G	ENSP00000510414.1:p.Leu1581Val
ENST00000689177.1:n.6088C>G
ENST00000689849.1:c.912C>G
ENST00000689981.1:c.4816C>G	ENSP00000509035.1:p.Leu1606Val
ENST00000690369.1:n.4834C>G
ENST00000690590.1:n.1863C>G
ENST00000690990.1:c.4810C>G	ENSP00000510461.1:p.Leu1604Val
ENST00000691233.1:c.4735C>G	ENSP00000509215.1:p.Leu1579Val
ENST00000691306.1:c.897C>G
ENST00000691345.1:n.2302+1477C>G
ENST00000691792.1:c.4804C>G	ENSP00000509911.1:p.Leu1602Val
ENST00000691959.1:n.5535C>G
ENST00000692844.1:n.1900C>G
ENST00000692946.1:c.912C>G
ENST00000693052.1:c.4834C>G	ENSP00000509558.1:p.Leu1612Val
ENST00000693289.1:n.1975C>G
ENST00000693440.1:c.4813C>G	ENSP00000509462.1:p.Leu1605Val
ENST00000693499.1:n.5812C>G
ENST00000693591.1:n.3624C>G
ENST00000380817.8:c.4816C>G MANE Select	ENSP00000370196.2:p.Leu1606Val
ENST00000348911.10:c.4741C>G	ENSP00000252027.7:p.Leu1581Val
ENST00000380817.7:c.4816C>G	ENSP00000370196.2:p.Leu1606Val
ENST00000418590.3:c.413-33C>G
ENST00000470434.1:n.957C>G
NM_002972.3:c.4816C>G	NP_002963.2:p.Leu1606Val
XM_005261931.1:c.4819C>G	XP_005261988.1:p.Leu1607Val
XM_005261935.1:c.4738C>G	XP_005261992.1:p.Leu1580Val
XM_011530707.1:c.4918C>G	XP_011529009.1:p.Leu1640Val
XM_011530708.1:c.4870C>G	XP_011529010.1:p.Leu1624Val
XM_011530709.1:c.4846C>G	XP_011529011.1:p.Leu1616Val
XM_011530710.1:c.4843C>G	XP_011529012.1:p.Leu1615Val
XM_011530711.1:c.4843C>G	XP_011529013.1:p.Leu1615Val
XR_938344.1:n.4936C>G
NM_001365819.1:c.4741C>G	NP_001352748.1:p.Leu1581Val
XM_005261935.2:c.4738C>G	XP_005261992.1:p.Leu1580Val
XM_011530709.2:c.4846C>G	XP_011529011.1:p.Leu1616Val
XM_011530710.2:c.4843C>G	XP_011529012.1:p.Leu1615Val
XM_017028905.2:c.4768C>G	XP_016884394.1:p.Leu1590Val
NM_002972.4:c.4816C>G MANE Select	NP_002963.2:p.Leu1606Val