Canonical Allele Identifier: CA515382676

Gene: SBF1

Linked Data

• dbSNP Id: rs2067188467
• gnomAD v4: 22-50454937-C-G
• MyVariant Identifiers: chr22:g.50893366C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454937C>G , CM000684.2:g.50454937C>G	GRCh38
NC_000022.10:g.50893366C>G , CM000684.1:g.50893366C>G	GRCh37
NC_000022.9:g.49240232C>G	NCBI36
NG_041810.1:g.25135G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4611G>C	ENSP00000252027.8:p.Leu1537=
ENST00000418590.4:c.321G>C	ENSP00000401538.2:p.Leu107=
ENST00000470434.2:n.1092G>C
ENST00000684986.1:c.4692G>C	ENSP00000509117.1:p.Leu1564=
ENST00000685180.1:n.2488+5597G>C
ENST00000685390.1:n.2657G>C
ENST00000685411.1:n.439G>C
ENST00000685592.1:c.923G>C
ENST00000685809.1:c.4602G>C	ENSP00000508863.1:p.Leu1534=
ENST00000686029.1:c.767G>C
ENST00000686191.1:n.3889G>C
ENST00000686222.1:c.*4111G>C	ENSP00000508737.1:n.*4111G>C
ENST00000686321.1:c.785G>C
ENST00000686427.1:c.*1624G>C	ENSP00000510379.1:n.*1624G>C
ENST00000686758.1:n.2503G>C
ENST00000686801.1:c.4677G>C	ENSP00000509915.1:p.Leu1559=
ENST00000686826.1:n.1008G>C
ENST00000687016.1:c.4590G>C	ENSP00000509074.1:p.Leu1530=
ENST00000687704.1:c.*2414G>C	ENSP00000510454.1:n.*2414G>C
ENST00000688066.1:c.4689G>C	ENSP00000510782.1:p.Leu1563=
ENST00000688124.1:c.*3607G>C	ENSP00000510645.1:n.*3607G>C
ENST00000688848.1:c.*4033G>C	ENSP00000509419.1:n.*4033G>C
ENST00000688985.1:c.1690G>C	ENSP00000510477.1:n.1690G>C
ENST00000689129.1:c.4614G>C	ENSP00000510414.1:p.Leu1538=
ENST00000689177.1:n.5961G>C
ENST00000689849.1:c.785G>C
ENST00000689981.1:c.4689G>C	ENSP00000509035.1:p.Leu1563=
ENST00000690369.1:n.4707G>C
ENST00000690590.1:n.1736G>C
ENST00000690990.1:c.4683G>C	ENSP00000510461.1:p.Leu1561=
ENST00000691233.1:c.4608G>C	ENSP00000509215.1:p.Leu1536=
ENST00000691306.1:c.780-10G>C
ENST00000691345.1:n.2302+1279G>C
ENST00000691792.1:c.4677G>C	ENSP00000509911.1:p.Leu1559=
ENST00000691959.1:n.5408G>C
ENST00000692844.1:n.1773G>C
ENST00000692946.1:c.785G>C
ENST00000693052.1:c.4707G>C	ENSP00000509558.1:p.Leu1569=
ENST00000693289.1:n.1848G>C
ENST00000693440.1:c.4686G>C	ENSP00000509462.1:p.Leu1562=
ENST00000693499.1:n.5685G>C
ENST00000693591.1:n.3497G>C
ENST00000380817.8:c.4689G>C MANE Select	ENSP00000370196.2:p.Leu1563=
ENST00000348911.10:c.4614G>C	ENSP00000252027.7:p.Leu1538=
ENST00000380817.7:c.4689G>C	ENSP00000370196.2:p.Leu1563=
ENST00000418590.3:c.289G>C
ENST00000470434.1:n.830G>C
NM_002972.3:c.4689G>C	NP_002963.2:p.Leu1563=
XM_005261931.1:c.4692G>C	XP_005261988.1:p.Leu1564=
XM_005261935.1:c.4611G>C	XP_005261992.1:p.Leu1537=
XM_011530707.1:c.4791G>C	XP_011529009.1:p.Leu1597=
XM_011530708.1:c.4743G>C	XP_011529010.1:p.Leu1581=
XM_011530709.1:c.4719G>C	XP_011529011.1:p.Leu1573=
XM_011530710.1:c.4716G>C	XP_011529012.1:p.Leu1572=
XM_011530711.1:c.4716G>C	XP_011529013.1:p.Leu1572=
XR_938344.1:n.4809G>C
NM_001365819.1:c.4614G>C	NP_001352748.1:p.Leu1538=
XM_005261935.2:c.4611G>C	XP_005261992.1:p.Leu1537=
XM_011530709.2:c.4719G>C	XP_011529011.1:p.Leu1573=
XM_011530710.2:c.4716G>C	XP_011529012.1:p.Leu1572=
XM_017028905.2:c.4641G>C	XP_016884394.1:p.Leu1547=
NM_002972.4:c.4689G>C MANE Select	NP_002963.2:p.Leu1563=