Canonical Allele Identifier: CA412194402

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893502C>G (hg19) ; chr22:g.50455073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455073C>G , CM000684.2:g.50455073C>G	GRCh38
NC_000022.10:g.50893502C>G , CM000684.1:g.50893502C>G	GRCh37
NC_000022.9:g.49240368C>G	NCBI36
NG_041810.1:g.24999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4546G>C	ENSP00000252027.8:p.Val1516Leu
ENST00000418590.4:c.256G>C	ENSP00000401538.2:p.Val86Leu
ENST00000470434.2:n.1027G>C
ENST00000684986.1:c.4627G>C	ENSP00000509117.1:p.Val1543Leu
ENST00000685180.1:n.2488+5461G>C
ENST00000685390.1:n.2592G>C
ENST00000685411.1:n.374G>C
ENST00000685592.1:c.858G>C
ENST00000685809.1:c.4537G>C	ENSP00000508863.1:p.Val1513Leu
ENST00000686029.1:c.702G>C
ENST00000686191.1:n.3824G>C
ENST00000686222.1:c.*4046G>C	ENSP00000508737.1:n.*4046G>C
ENST00000686321.1:c.720G>C
ENST00000686427.1:c.*1559G>C	ENSP00000510379.1:n.*1559G>C
ENST00000686758.1:n.2367G>C
ENST00000686801.1:c.4612G>C	ENSP00000509915.1:p.Val1538Leu
ENST00000686826.1:n.943G>C
ENST00000687016.1:c.4525G>C	ENSP00000509074.1:p.Val1509Leu
ENST00000687704.1:c.*2349G>C	ENSP00000510454.1:n.*2349G>C
ENST00000688066.1:c.4624G>C	ENSP00000510782.1:p.Val1542Leu
ENST00000688124.1:c.*3542G>C	ENSP00000510645.1:n.*3542G>C
ENST00000688848.1:c.*3968G>C	ENSP00000509419.1:n.*3968G>C
ENST00000688985.1:c.1625G>C	ENSP00000510477.1:n.1625G>C
ENST00000689129.1:c.4549G>C	ENSP00000510414.1:p.Val1517Leu
ENST00000689177.1:n.5896G>C
ENST00000689849.1:c.720G>C
ENST00000689981.1:c.4624G>C	ENSP00000509035.1:p.Val1542Leu
ENST00000690369.1:n.4642G>C
ENST00000690590.1:n.1671G>C
ENST00000690990.1:c.4618G>C	ENSP00000510461.1:p.Val1540Leu
ENST00000691233.1:c.4543G>C	ENSP00000509215.1:p.Val1515Leu
ENST00000691306.1:c.722G>C
ENST00000691345.1:n.2302+1143G>C
ENST00000691792.1:c.4612G>C	ENSP00000509911.1:p.Val1538Leu
ENST00000691959.1:n.5343G>C
ENST00000692844.1:n.1708G>C
ENST00000692946.1:c.720G>C
ENST00000693052.1:c.4642G>C	ENSP00000509558.1:p.Val1548Leu
ENST00000693289.1:n.1783G>C
ENST00000693440.1:c.4621G>C	ENSP00000509462.1:p.Val1541Leu
ENST00000693499.1:n.5549G>C
ENST00000693591.1:n.3361G>C
ENST00000380817.8:c.4624G>C MANE Select	ENSP00000370196.2:p.Val1542Leu
ENST00000348911.10:c.4549G>C	ENSP00000252027.7:p.Val1517Leu
ENST00000380817.7:c.4624G>C	ENSP00000370196.2:p.Val1542Leu
ENST00000418590.3:c.224G>C
ENST00000470434.1:n.765G>C
NM_002972.3:c.4624G>C	NP_002963.2:p.Val1542Leu
XM_005261931.1:c.4627G>C	XP_005261988.1:p.Val1543Leu
XM_005261935.1:c.4546G>C	XP_005261992.1:p.Val1516Leu
XM_011530707.1:c.4726G>C	XP_011529009.1:p.Val1576Leu
XM_011530708.1:c.4678G>C	XP_011529010.1:p.Val1560Leu
XM_011530709.1:c.4654G>C	XP_011529011.1:p.Val1552Leu
XM_011530710.1:c.4651G>C	XP_011529012.1:p.Val1551Leu
XM_011530711.1:c.4651G>C	XP_011529013.1:p.Val1551Leu
XR_938344.1:n.4744G>C
NM_001365819.1:c.4549G>C	NP_001352748.1:p.Val1517Leu
XM_005261935.2:c.4546G>C	XP_005261992.1:p.Val1516Leu
XM_011530709.2:c.4654G>C	XP_011529011.1:p.Val1552Leu
XM_011530710.2:c.4651G>C	XP_011529012.1:p.Val1551Leu
XM_017028905.2:c.4576G>C	XP_016884394.1:p.Val1526Leu
NM_002972.4:c.4624G>C MANE Select	NP_002963.2:p.Val1542Leu