Canonical Allele Identifier: CA10316147

Gene: SBF1

Linked Data

• ClinVar Variation Id: 1330764
• ClinVar RCV Id: RCV001802423 ; RCV001869472
• dbSNP Id: rs199779197
• ExAC: 22:50893331 G / A
• gnomAD v2: 22-50893331-G-A
• gnomAD v3: 22-50454902-G-A
• gnomAD v4: 22-50454902-G-A
• COSMIC: COSM1287764 ; COSM1287765
• MyVariant Identifiers: chr22:g.50893331G>A (hg19) ; chr22:g.50454902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454902G>A , CM000684.2:g.50454902G>A	GRCh38
NC_000022.10:g.50893331G>A , CM000684.1:g.50893331G>A	GRCh37
NC_000022.9:g.49240197G>A	NCBI36
NG_041810.1:g.25170C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4646C>T	ENSP00000252027.8:p.Pro1549Leu
ENST00000418590.4:c.356C>T	ENSP00000401538.2:p.Pro119Leu
ENST00000470434.2:n.1127C>T
ENST00000684986.1:c.4727C>T	ENSP00000509117.1:p.Pro1576Leu
ENST00000685180.1:n.2488+5632C>T
ENST00000685390.1:n.2692C>T
ENST00000685411.1:n.474C>T
ENST00000685592.1:c.958C>T
ENST00000685809.1:c.4637C>T	ENSP00000508863.1:p.Pro1546Leu
ENST00000686029.1:c.802C>T
ENST00000686191.1:n.3924C>T
ENST00000686222.1:c.*4146C>T	ENSP00000508737.1:n.*4146C>T
ENST00000686321.1:c.820C>T
ENST00000686427.1:c.*1659C>T	ENSP00000510379.1:n.*1659C>T
ENST00000686758.1:n.2538C>T
ENST00000686801.1:c.4712C>T	ENSP00000509915.1:p.Pro1571Leu
ENST00000686826.1:n.1043C>T
ENST00000687016.1:c.4625C>T	ENSP00000509074.1:p.Pro1542Leu
ENST00000687704.1:c.*2449C>T	ENSP00000510454.1:n.*2449C>T
ENST00000688066.1:c.4724C>T	ENSP00000510782.1:p.Pro1575Leu
ENST00000688124.1:c.*3642C>T	ENSP00000510645.1:n.*3642C>T
ENST00000688848.1:c.*4068C>T	ENSP00000509419.1:n.*4068C>T
ENST00000688985.1:c.1725C>T	ENSP00000510477.1:n.1725C>T
ENST00000689129.1:c.4649C>T	ENSP00000510414.1:p.Pro1550Leu
ENST00000689177.1:n.5996C>T
ENST00000689849.1:c.820C>T
ENST00000689981.1:c.4724C>T	ENSP00000509035.1:p.Pro1575Leu
ENST00000690369.1:n.4742C>T
ENST00000690590.1:n.1771C>T
ENST00000690990.1:c.4718C>T	ENSP00000510461.1:p.Pro1573Leu
ENST00000691233.1:c.4643C>T	ENSP00000509215.1:p.Pro1548Leu
ENST00000691306.1:c.805C>T
ENST00000691345.1:n.2302+1314C>T
ENST00000691792.1:c.4712C>T	ENSP00000509911.1:p.Pro1571Leu
ENST00000691959.1:n.5443C>T
ENST00000692844.1:n.1808C>T
ENST00000692946.1:c.820C>T
ENST00000693052.1:c.4742C>T	ENSP00000509558.1:p.Pro1581Leu
ENST00000693289.1:n.1883C>T
ENST00000693440.1:c.4721C>T	ENSP00000509462.1:p.Pro1574Leu
ENST00000693499.1:n.5720C>T
ENST00000693591.1:n.3532C>T
ENST00000380817.8:c.4724C>T MANE Select	ENSP00000370196.2:p.Pro1575Leu
ENST00000348911.10:c.4649C>T	ENSP00000252027.7:p.Pro1550Leu
ENST00000380817.7:c.4724C>T	ENSP00000370196.2:p.Pro1575Leu
ENST00000418590.3:c.324C>T
ENST00000470434.1:n.865C>T
NM_002972.3:c.4724C>T	NP_002963.2:p.Pro1575Leu
XM_005261931.1:c.4727C>T	XP_005261988.1:p.Pro1576Leu
XM_005261935.1:c.4646C>T	XP_005261992.1:p.Pro1549Leu
XM_011530707.1:c.4826C>T	XP_011529009.1:p.Pro1609Leu
XM_011530708.1:c.4778C>T	XP_011529010.1:p.Pro1593Leu
XM_011530709.1:c.4754C>T	XP_011529011.1:p.Pro1585Leu
XM_011530710.1:c.4751C>T	XP_011529012.1:p.Pro1584Leu
XM_011530711.1:c.4751C>T	XP_011529013.1:p.Pro1584Leu
XR_938344.1:n.4844C>T
NM_001365819.1:c.4649C>T	NP_001352748.1:p.Pro1550Leu
XM_005261935.2:c.4646C>T	XP_005261992.1:p.Pro1549Leu
XM_011530709.2:c.4754C>T	XP_011529011.1:p.Pro1585Leu
XM_011530710.2:c.4751C>T	XP_011529012.1:p.Pro1584Leu
XM_017028905.2:c.4676C>T	XP_016884394.1:p.Pro1559Leu
NM_002972.4:c.4724C>T MANE Select	NP_002963.2:p.Pro1575Leu