Canonical Allele Identifier: CA412194509

Gene: SBF1

Linked Data

• gnomAD v4: 22-50455079-G-A
• MyVariant Identifiers: chr22:g.50893508G>A (hg19) ; chr22:g.50455079G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455079G>A , CM000684.2:g.50455079G>A	GRCh38
NC_000022.10:g.50893508G>A , CM000684.1:g.50893508G>A	GRCh37
NC_000022.9:g.49240374G>A	NCBI36
NG_041810.1:g.24993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4540C>T	ENSP00000252027.8:p.His1514Tyr
ENST00000418590.4:c.250C>T	ENSP00000401538.2:p.His84Tyr
ENST00000470434.2:n.1021C>T
ENST00000684986.1:c.4621C>T	ENSP00000509117.1:p.His1541Tyr
ENST00000685180.1:n.2488+5455C>T
ENST00000685390.1:n.2586C>T
ENST00000685411.1:n.368C>T
ENST00000685592.1:c.852C>T
ENST00000685809.1:c.4531C>T	ENSP00000508863.1:p.His1511Tyr
ENST00000686029.1:c.696C>T
ENST00000686191.1:n.3818C>T
ENST00000686222.1:c.*4040C>T	ENSP00000508737.1:n.*4040C>T
ENST00000686321.1:c.714C>T
ENST00000686427.1:c.*1553C>T	ENSP00000510379.1:n.*1553C>T
ENST00000686758.1:n.2361C>T
ENST00000686801.1:c.4606C>T	ENSP00000509915.1:p.His1536Tyr
ENST00000686826.1:n.937C>T
ENST00000687016.1:c.4519C>T	ENSP00000509074.1:p.His1507Tyr
ENST00000687704.1:c.*2343C>T	ENSP00000510454.1:n.*2343C>T
ENST00000688066.1:c.4618C>T	ENSP00000510782.1:p.His1540Tyr
ENST00000688124.1:c.*3536C>T	ENSP00000510645.1:n.*3536C>T
ENST00000688848.1:c.*3962C>T	ENSP00000509419.1:n.*3962C>T
ENST00000688985.1:c.1619C>T	ENSP00000510477.1:n.1619C>T
ENST00000689129.1:c.4543C>T	ENSP00000510414.1:p.His1515Tyr
ENST00000689177.1:n.5890C>T
ENST00000689849.1:c.714C>T
ENST00000689981.1:c.4618C>T	ENSP00000509035.1:p.His1540Tyr
ENST00000690369.1:n.4636C>T
ENST00000690590.1:n.1665C>T
ENST00000690990.1:c.4612C>T	ENSP00000510461.1:p.His1538Tyr
ENST00000691233.1:c.4537C>T	ENSP00000509215.1:p.His1513Tyr
ENST00000691306.1:c.716C>T
ENST00000691345.1:n.2302+1137C>T
ENST00000691792.1:c.4606C>T	ENSP00000509911.1:p.His1536Tyr
ENST00000691959.1:n.5337C>T
ENST00000692844.1:n.1702C>T
ENST00000692946.1:c.714C>T
ENST00000693052.1:c.4636C>T	ENSP00000509558.1:p.His1546Tyr
ENST00000693289.1:n.1777C>T
ENST00000693440.1:c.4615C>T	ENSP00000509462.1:p.His1539Tyr
ENST00000693499.1:n.5543C>T
ENST00000693591.1:n.3355C>T
ENST00000380817.8:c.4618C>T MANE Select	ENSP00000370196.2:p.His1540Tyr
ENST00000348911.10:c.4543C>T	ENSP00000252027.7:p.His1515Tyr
ENST00000380817.7:c.4618C>T	ENSP00000370196.2:p.His1540Tyr
ENST00000418590.3:c.218C>T
ENST00000470434.1:n.759C>T
NM_002972.3:c.4618C>T	NP_002963.2:p.His1540Tyr
XM_005261931.1:c.4621C>T	XP_005261988.1:p.His1541Tyr
XM_005261935.1:c.4540C>T	XP_005261992.1:p.His1514Tyr
XM_011530707.1:c.4720C>T	XP_011529009.1:p.His1574Tyr
XM_011530708.1:c.4672C>T	XP_011529010.1:p.His1558Tyr
XM_011530709.1:c.4648C>T	XP_011529011.1:p.His1550Tyr
XM_011530710.1:c.4645C>T	XP_011529012.1:p.His1549Tyr
XM_011530711.1:c.4645C>T	XP_011529013.1:p.His1549Tyr
XR_938344.1:n.4738C>T
NM_001365819.1:c.4543C>T	NP_001352748.1:p.His1515Tyr
XM_005261935.2:c.4540C>T	XP_005261992.1:p.His1514Tyr
XM_011530709.2:c.4648C>T	XP_011529011.1:p.His1550Tyr
XM_011530710.2:c.4645C>T	XP_011529012.1:p.His1549Tyr
XM_017028905.2:c.4570C>T	XP_016884394.1:p.His1524Tyr
NM_002972.4:c.4618C>T MANE Select	NP_002963.2:p.His1540Tyr