Canonical Allele Identifier: CA515382415

Gene: SBF1

Linked Data

• dbSNP Id: rs1178142988
• gnomAD v2: 22-50893554-G-A
• gnomAD v4: 22-50455125-G-A
• MyVariant Identifiers: chr22:g.50893554G>A (hg19) ; chr22:g.50455125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455125G>A , CM000684.2:g.50455125G>A	GRCh38
NC_000022.10:g.50893554G>A , CM000684.1:g.50893554G>A	GRCh37
NC_000022.9:g.49240420G>A	NCBI36
NG_041810.1:g.24947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4494C>T	ENSP00000252027.8:p.Pro1498=
ENST00000418590.4:c.204C>T	ENSP00000401538.2:p.Pro68=
ENST00000470434.2:n.975C>T
ENST00000684986.1:c.4575C>T	ENSP00000509117.1:p.Pro1525=
ENST00000685180.1:n.2488+5409C>T
ENST00000685390.1:n.2540C>T
ENST00000685411.1:n.322C>T
ENST00000685592.1:c.806C>T
ENST00000685809.1:c.4485C>T	ENSP00000508863.1:p.Pro1495=
ENST00000686029.1:c.650C>T
ENST00000686191.1:n.3772C>T
ENST00000686222.1:c.*3994C>T	ENSP00000508737.1:n.*3994C>T
ENST00000686321.1:c.668C>T
ENST00000686427.1:c.*1507C>T	ENSP00000510379.1:n.*1507C>T
ENST00000686758.1:n.2315C>T
ENST00000686801.1:c.4560C>T	ENSP00000509915.1:p.Pro1520=
ENST00000686826.1:n.891C>T
ENST00000687016.1:c.4473C>T	ENSP00000509074.1:p.Pro1491=
ENST00000687704.1:c.*2297C>T	ENSP00000510454.1:n.*2297C>T
ENST00000688066.1:c.4572C>T	ENSP00000510782.1:p.Pro1524=
ENST00000688124.1:c.*3490C>T	ENSP00000510645.1:n.*3490C>T
ENST00000688848.1:c.*3916C>T	ENSP00000509419.1:n.*3916C>T
ENST00000688985.1:c.1573C>T	ENSP00000510477.1:n.1573C>T
ENST00000689129.1:c.4497C>T	ENSP00000510414.1:p.Pro1499=
ENST00000689177.1:n.5844C>T
ENST00000689849.1:c.668C>T
ENST00000689981.1:c.4572C>T	ENSP00000509035.1:p.Pro1524=
ENST00000690369.1:n.4590C>T
ENST00000690590.1:n.1619C>T
ENST00000690990.1:c.4566C>T	ENSP00000510461.1:p.Pro1522=
ENST00000691233.1:c.4491C>T	ENSP00000509215.1:p.Pro1497=
ENST00000691306.1:c.670C>T
ENST00000691345.1:n.2302+1091C>T
ENST00000691792.1:c.4560C>T	ENSP00000509911.1:p.Pro1520=
ENST00000691959.1:n.5291C>T
ENST00000692844.1:n.1656C>T
ENST00000692946.1:c.668C>T
ENST00000693052.1:c.4590C>T	ENSP00000509558.1:p.Pro1530=
ENST00000693289.1:n.1731C>T
ENST00000693440.1:c.4569C>T	ENSP00000509462.1:p.Pro1523=
ENST00000693499.1:n.5497C>T
ENST00000693591.1:n.3309C>T
ENST00000380817.8:c.4572C>T MANE Select	ENSP00000370196.2:p.Pro1524=
ENST00000348911.10:c.4497C>T	ENSP00000252027.7:p.Pro1499=
ENST00000380817.7:c.4572C>T	ENSP00000370196.2:p.Pro1524=
ENST00000418590.3:c.172C>T
ENST00000470434.1:n.713C>T
NM_002972.3:c.4572C>T	NP_002963.2:p.Pro1524=
XM_005261931.1:c.4575C>T	XP_005261988.1:p.Pro1525=
XM_005261935.1:c.4494C>T	XP_005261992.1:p.Pro1498=
XM_011530707.1:c.4674C>T	XP_011529009.1:p.Pro1558=
XM_011530708.1:c.4626C>T	XP_011529010.1:p.Pro1542=
XM_011530709.1:c.4602C>T	XP_011529011.1:p.Pro1534=
XM_011530710.1:c.4599C>T	XP_011529012.1:p.Pro1533=
XM_011530711.1:c.4599C>T	XP_011529013.1:p.Pro1533=
XR_938344.1:n.4692C>T
NM_001365819.1:c.4497C>T	NP_001352748.1:p.Pro1499=
XM_005261935.2:c.4494C>T	XP_005261992.1:p.Pro1498=
XM_011530709.2:c.4602C>T	XP_011529011.1:p.Pro1534=
XM_011530710.2:c.4599C>T	XP_011529012.1:p.Pro1533=
XM_017028905.2:c.4524C>T	XP_016884394.1:p.Pro1508=
NM_002972.4:c.4572C>T MANE Select	NP_002963.2:p.Pro1524=