Canonical Allele Identifier: CA412194010

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455025-T-G
• MyVariant Identifiers: chr22:g.50893454T>G (hg19) ; chr22:g.50455025T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455025T>G , CM000684.2:g.50455025T>G	GRCh38
NC_000022.10:g.50893454T>G , CM000684.1:g.50893454T>G	GRCh37
NC_000022.9:g.49240320T>G	NCBI36
NG_041810.1:g.25047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4594A>C	ENSP00000252027.8:p.Ile1532Leu
ENST00000418590.4:c.304A>C	ENSP00000401538.2:p.Ile102Leu
ENST00000470434.2:n.1075A>C
ENST00000684986.1:c.4675A>C	ENSP00000509117.1:p.Ile1559Leu
ENST00000685180.1:n.2488+5509A>C
ENST00000685390.1:n.2640A>C
ENST00000685411.1:n.422A>C
ENST00000685592.1:c.906A>C
ENST00000685809.1:c.4585A>C	ENSP00000508863.1:p.Ile1529Leu
ENST00000686029.1:c.750A>C
ENST00000686191.1:n.3872A>C
ENST00000686222.1:c.*4094A>C	ENSP00000508737.1:n.*4094A>C
ENST00000686321.1:c.768A>C
ENST00000686427.1:c.*1607A>C	ENSP00000510379.1:n.*1607A>C
ENST00000686758.1:n.2415A>C
ENST00000686801.1:c.4660A>C	ENSP00000509915.1:p.Ile1554Leu
ENST00000686826.1:n.991A>C
ENST00000687016.1:c.4573A>C	ENSP00000509074.1:p.Ile1525Leu
ENST00000687704.1:c.*2397A>C	ENSP00000510454.1:n.*2397A>C
ENST00000688066.1:c.4672A>C	ENSP00000510782.1:p.Ile1558Leu
ENST00000688124.1:c.*3590A>C	ENSP00000510645.1:n.*3590A>C
ENST00000688848.1:c.*4016A>C	ENSP00000509419.1:n.*4016A>C
ENST00000688985.1:c.1673A>C	ENSP00000510477.1:n.1673A>C
ENST00000689129.1:c.4597A>C	ENSP00000510414.1:p.Ile1533Leu
ENST00000689177.1:n.5944A>C
ENST00000689849.1:c.768A>C
ENST00000689981.1:c.4672A>C	ENSP00000509035.1:p.Ile1558Leu
ENST00000690369.1:n.4690A>C
ENST00000690590.1:n.1719A>C
ENST00000690990.1:c.4666A>C	ENSP00000510461.1:p.Ile1556Leu
ENST00000691233.1:c.4591A>C	ENSP00000509215.1:p.Ile1531Leu
ENST00000691306.1:c.770A>C
ENST00000691345.1:n.2302+1191A>C
ENST00000691792.1:c.4660A>C	ENSP00000509911.1:p.Ile1554Leu
ENST00000691959.1:n.5391A>C
ENST00000692844.1:n.1756A>C
ENST00000692946.1:c.768A>C
ENST00000693052.1:c.4690A>C	ENSP00000509558.1:p.Ile1564Leu
ENST00000693289.1:n.1831A>C
ENST00000693440.1:c.4669A>C	ENSP00000509462.1:p.Ile1557Leu
ENST00000693499.1:n.5597A>C
ENST00000693591.1:n.3409A>C
ENST00000380817.8:c.4672A>C MANE Select	ENSP00000370196.2:p.Ile1558Leu
ENST00000348911.10:c.4597A>C	ENSP00000252027.7:p.Ile1533Leu
ENST00000380817.7:c.4672A>C	ENSP00000370196.2:p.Ile1558Leu
ENST00000418590.3:c.272A>C
ENST00000470434.1:n.813A>C
NM_002972.3:c.4672A>C	NP_002963.2:p.Ile1558Leu
XM_005261931.1:c.4675A>C	XP_005261988.1:p.Ile1559Leu
XM_005261935.1:c.4594A>C	XP_005261992.1:p.Ile1532Leu
XM_011530707.1:c.4774A>C	XP_011529009.1:p.Ile1592Leu
XM_011530708.1:c.4726A>C	XP_011529010.1:p.Ile1576Leu
XM_011530709.1:c.4702A>C	XP_011529011.1:p.Ile1568Leu
XM_011530710.1:c.4699A>C	XP_011529012.1:p.Ile1567Leu
XM_011530711.1:c.4699A>C	XP_011529013.1:p.Ile1567Leu
XR_938344.1:n.4792A>C
NM_001365819.1:c.4597A>C	NP_001352748.1:p.Ile1533Leu
XM_005261935.2:c.4594A>C	XP_005261992.1:p.Ile1532Leu
XM_011530709.2:c.4702A>C	XP_011529011.1:p.Ile1568Leu
XM_011530710.2:c.4699A>C	XP_011529012.1:p.Ile1567Leu
XM_017028905.2:c.4624A>C	XP_016884394.1:p.Ile1542Leu
NM_002972.4:c.4672A>C MANE Select	NP_002963.2:p.Ile1558Leu