Canonical Allele Identifier: CA515382575

Gene: SBF1

Linked Data

• dbSNP Id: rs778315437
• gnomAD v2: 22-50893330-C-A
• gnomAD v4: 22-50454901-C-A
• MyVariant Identifiers: chr22:g.50893330C>A (hg19) ; chr22:g.50454901C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454901C>A , CM000684.2:g.50454901C>A	GRCh38
NC_000022.10:g.50893330C>A , CM000684.1:g.50893330C>A	GRCh37
NC_000022.9:g.49240196C>A	NCBI36
NG_041810.1:g.25171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4647G>T	ENSP00000252027.8:p.Pro1549=
ENST00000418590.4:c.357G>T	ENSP00000401538.2:p.Pro119=
ENST00000470434.2:n.1128G>T
ENST00000684986.1:c.4728G>T	ENSP00000509117.1:p.Pro1576=
ENST00000685180.1:n.2488+5633G>T
ENST00000685390.1:n.2693G>T
ENST00000685411.1:n.475G>T
ENST00000685592.1:c.959G>T
ENST00000685809.1:c.4638G>T	ENSP00000508863.1:p.Pro1546=
ENST00000686029.1:c.803G>T
ENST00000686191.1:n.3925G>T
ENST00000686222.1:c.*4147G>T	ENSP00000508737.1:n.*4147G>T
ENST00000686321.1:c.821G>T
ENST00000686427.1:c.*1660G>T	ENSP00000510379.1:n.*1660G>T
ENST00000686758.1:n.2539G>T
ENST00000686801.1:c.4713G>T	ENSP00000509915.1:p.Pro1571=
ENST00000686826.1:n.1044G>T
ENST00000687016.1:c.4626G>T	ENSP00000509074.1:p.Pro1542=
ENST00000687704.1:c.*2450G>T	ENSP00000510454.1:n.*2450G>T
ENST00000688066.1:c.4725G>T	ENSP00000510782.1:p.Pro1575=
ENST00000688124.1:c.*3643G>T	ENSP00000510645.1:n.*3643G>T
ENST00000688848.1:c.*4069G>T	ENSP00000509419.1:n.*4069G>T
ENST00000688985.1:c.1726G>T	ENSP00000510477.1:n.1726G>T
ENST00000689129.1:c.4650G>T	ENSP00000510414.1:p.Pro1550=
ENST00000689177.1:n.5997G>T
ENST00000689849.1:c.821G>T
ENST00000689981.1:c.4725G>T	ENSP00000509035.1:p.Pro1575=
ENST00000690369.1:n.4743G>T
ENST00000690590.1:n.1772G>T
ENST00000690990.1:c.4719G>T	ENSP00000510461.1:p.Pro1573=
ENST00000691233.1:c.4644G>T	ENSP00000509215.1:p.Pro1548=
ENST00000691306.1:c.806G>T
ENST00000691345.1:n.2302+1315G>T
ENST00000691792.1:c.4713G>T	ENSP00000509911.1:p.Pro1571=
ENST00000691959.1:n.5444G>T
ENST00000692844.1:n.1809G>T
ENST00000692946.1:c.821G>T
ENST00000693052.1:c.4743G>T	ENSP00000509558.1:p.Pro1581=
ENST00000693289.1:n.1884G>T
ENST00000693440.1:c.4722G>T	ENSP00000509462.1:p.Pro1574=
ENST00000693499.1:n.5721G>T
ENST00000693591.1:n.3533G>T
ENST00000380817.8:c.4725G>T MANE Select	ENSP00000370196.2:p.Pro1575=
ENST00000348911.10:c.4650G>T	ENSP00000252027.7:p.Pro1550=
ENST00000380817.7:c.4725G>T	ENSP00000370196.2:p.Pro1575=
ENST00000418590.3:c.325G>T
ENST00000470434.1:n.866G>T
NM_002972.3:c.4725G>T	NP_002963.2:p.Pro1575=
XM_005261931.1:c.4728G>T	XP_005261988.1:p.Pro1576=
XM_005261935.1:c.4647G>T	XP_005261992.1:p.Pro1549=
XM_011530707.1:c.4827G>T	XP_011529009.1:p.Pro1609=
XM_011530708.1:c.4779G>T	XP_011529010.1:p.Pro1593=
XM_011530709.1:c.4755G>T	XP_011529011.1:p.Pro1585=
XM_011530710.1:c.4752G>T	XP_011529012.1:p.Pro1584=
XM_011530711.1:c.4752G>T	XP_011529013.1:p.Pro1584=
XR_938344.1:n.4845G>T
NM_001365819.1:c.4650G>T	NP_001352748.1:p.Pro1550=
XM_005261935.2:c.4647G>T	XP_005261992.1:p.Pro1549=
XM_011530709.2:c.4755G>T	XP_011529011.1:p.Pro1585=
XM_011530710.2:c.4752G>T	XP_011529012.1:p.Pro1584=
XM_017028905.2:c.4677G>T	XP_016884394.1:p.Pro1559=
NM_002972.4:c.4725G>T MANE Select	NP_002963.2:p.Pro1575=