Canonical Allele Identifier: CA412192970

Gene: SBF1

Linked Data

• dbSNP Id: rs1218064856
• gnomAD v2: 22-50893264-C-T
• gnomAD v4: 22-50454835-C-T
• MyVariant Identifiers: chr22:g.50893264C>T (hg19) ; chr22:g.50454835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454835C>T , CM000684.2:g.50454835C>T	GRCh38
NC_000022.10:g.50893264C>T , CM000684.1:g.50893264C>T	GRCh37
NC_000022.9:g.49240130C>T	NCBI36
NG_041810.1:g.25237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4713G>A	ENSP00000252027.8:p.Met1571Ile
ENST00000418590.4:c.423G>A	ENSP00000401538.2:p.Met141Ile
ENST00000470434.2:n.1194G>A
ENST00000684986.1:c.4794G>A	ENSP00000509117.1:p.Met1598Ile
ENST00000685180.1:n.2488+5699G>A
ENST00000685390.1:n.2759G>A
ENST00000685411.1:n.541G>A
ENST00000685592.1:c.1025G>A
ENST00000685809.1:c.4704G>A	ENSP00000508863.1:p.Met1568Ile
ENST00000686029.1:c.869G>A
ENST00000686191.1:n.3991G>A
ENST00000686222.1:c.*4213G>A	ENSP00000508737.1:n.*4213G>A
ENST00000686321.1:c.887G>A
ENST00000686427.1:c.*1726G>A	ENSP00000510379.1:n.*1726G>A
ENST00000686758.1:n.2605G>A
ENST00000686801.1:c.4779G>A	ENSP00000509915.1:p.Met1593Ile
ENST00000686826.1:n.1110G>A
ENST00000687016.1:c.4692G>A	ENSP00000509074.1:p.Met1564Ile
ENST00000687704.1:c.*2516G>A	ENSP00000510454.1:n.*2516G>A
ENST00000688066.1:c.4791G>A	ENSP00000510782.1:p.Met1597Ile
ENST00000688124.1:c.*3709G>A	ENSP00000510645.1:n.*3709G>A
ENST00000688848.1:c.*4135G>A	ENSP00000509419.1:n.*4135G>A
ENST00000688985.1:c.1792G>A	ENSP00000510477.1:n.1792G>A
ENST00000689129.1:c.4716G>A	ENSP00000510414.1:p.Met1572Ile
ENST00000689177.1:n.6063G>A
ENST00000689849.1:c.887G>A
ENST00000689981.1:c.4791G>A	ENSP00000509035.1:p.Met1597Ile
ENST00000690369.1:n.4809G>A
ENST00000690590.1:n.1838G>A
ENST00000690990.1:c.4785G>A	ENSP00000510461.1:p.Met1595Ile
ENST00000691233.1:c.4710G>A	ENSP00000509215.1:p.Met1570Ile
ENST00000691306.1:c.872G>A
ENST00000691345.1:n.2302+1381G>A
ENST00000691792.1:c.4779G>A	ENSP00000509911.1:p.Met1593Ile
ENST00000691959.1:n.5510G>A
ENST00000692844.1:n.1875G>A
ENST00000692946.1:c.887G>A
ENST00000693052.1:c.4809G>A	ENSP00000509558.1:p.Met1603Ile
ENST00000693289.1:n.1950G>A
ENST00000693440.1:c.4788G>A	ENSP00000509462.1:p.Met1596Ile
ENST00000693499.1:n.5787G>A
ENST00000693591.1:n.3599G>A
ENST00000380817.8:c.4791G>A MANE Select	ENSP00000370196.2:p.Met1597Ile
ENST00000348911.10:c.4716G>A	ENSP00000252027.7:p.Met1572Ile
ENST00000380817.7:c.4791G>A	ENSP00000370196.2:p.Met1597Ile
ENST00000418590.3:c.391G>A
ENST00000470434.1:n.932G>A
NM_002972.3:c.4791G>A	NP_002963.2:p.Met1597Ile
XM_005261931.1:c.4794G>A	XP_005261988.1:p.Met1598Ile
XM_005261935.1:c.4713G>A	XP_005261992.1:p.Met1571Ile
XM_011530707.1:c.4893G>A	XP_011529009.1:p.Met1631Ile
XM_011530708.1:c.4845G>A	XP_011529010.1:p.Met1615Ile
XM_011530709.1:c.4821G>A	XP_011529011.1:p.Met1607Ile
XM_011530710.1:c.4818G>A	XP_011529012.1:p.Met1606Ile
XM_011530711.1:c.4818G>A	XP_011529013.1:p.Met1606Ile
XR_938344.1:n.4911G>A
NM_001365819.1:c.4716G>A	NP_001352748.1:p.Met1572Ile
XM_005261935.2:c.4713G>A	XP_005261992.1:p.Met1571Ile
XM_011530709.2:c.4821G>A	XP_011529011.1:p.Met1607Ile
XM_011530710.2:c.4818G>A	XP_011529012.1:p.Met1606Ile
XM_017028905.2:c.4743G>A	XP_016884394.1:p.Met1581Ile
NM_002972.4:c.4791G>A MANE Select	NP_002963.2:p.Met1597Ile