Canonical Allele Identifier: CA515382809

Gene: SBF1

Linked Data

• dbSNP Id: rs1269163733
• MyVariant Identifiers: chr22:g.50893267G>A (hg19) ; chr22:g.50454838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50454838G>A , CM000684.2:g.50454838G>A	GRCh38
NC_000022.10:g.50893267G>A , CM000684.1:g.50893267G>A	GRCh37
NC_000022.9:g.49240133G>A	NCBI36
NG_041810.1:g.25234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4710C>T	ENSP00000252027.8:p.Tyr1570=
ENST00000418590.4:c.420C>T	ENSP00000401538.2:p.Tyr140=
ENST00000470434.2:n.1191C>T
ENST00000684986.1:c.4791C>T	ENSP00000509117.1:p.Tyr1597=
ENST00000685180.1:n.2488+5696C>T
ENST00000685390.1:n.2756C>T
ENST00000685411.1:n.538C>T
ENST00000685592.1:c.1022C>T
ENST00000685809.1:c.4701C>T	ENSP00000508863.1:p.Tyr1567=
ENST00000686029.1:c.866C>T
ENST00000686191.1:n.3988C>T
ENST00000686222.1:c.*4210C>T	ENSP00000508737.1:n.*4210C>T
ENST00000686321.1:c.884C>T
ENST00000686427.1:c.*1723C>T	ENSP00000510379.1:n.*1723C>T
ENST00000686758.1:n.2602C>T
ENST00000686801.1:c.4776C>T	ENSP00000509915.1:p.Tyr1592=
ENST00000686826.1:n.1107C>T
ENST00000687016.1:c.4689C>T	ENSP00000509074.1:p.Tyr1563=
ENST00000687704.1:c.*2513C>T	ENSP00000510454.1:n.*2513C>T
ENST00000688066.1:c.4788C>T	ENSP00000510782.1:p.Tyr1596=
ENST00000688124.1:c.*3706C>T	ENSP00000510645.1:n.*3706C>T
ENST00000688848.1:c.*4132C>T	ENSP00000509419.1:n.*4132C>T
ENST00000688985.1:c.1789C>T	ENSP00000510477.1:n.1789C>T
ENST00000689129.1:c.4713C>T	ENSP00000510414.1:p.Tyr1571=
ENST00000689177.1:n.6060C>T
ENST00000689849.1:c.884C>T
ENST00000689981.1:c.4788C>T	ENSP00000509035.1:p.Tyr1596=
ENST00000690369.1:n.4806C>T
ENST00000690590.1:n.1835C>T
ENST00000690990.1:c.4782C>T	ENSP00000510461.1:p.Tyr1594=
ENST00000691233.1:c.4707C>T	ENSP00000509215.1:p.Tyr1569=
ENST00000691306.1:c.869C>T
ENST00000691345.1:n.2302+1378C>T
ENST00000691792.1:c.4776C>T	ENSP00000509911.1:p.Tyr1592=
ENST00000691959.1:n.5507C>T
ENST00000692844.1:n.1872C>T
ENST00000692946.1:c.884C>T
ENST00000693052.1:c.4806C>T	ENSP00000509558.1:p.Tyr1602=
ENST00000693289.1:n.1947C>T
ENST00000693440.1:c.4785C>T	ENSP00000509462.1:p.Tyr1595=
ENST00000693499.1:n.5784C>T
ENST00000693591.1:n.3596C>T
ENST00000380817.8:c.4788C>T MANE Select	ENSP00000370196.2:p.Tyr1596=
ENST00000348911.10:c.4713C>T	ENSP00000252027.7:p.Tyr1571=
ENST00000380817.7:c.4788C>T	ENSP00000370196.2:p.Tyr1596=
ENST00000418590.3:c.388C>T
ENST00000470434.1:n.929C>T
NM_002972.3:c.4788C>T	NP_002963.2:p.Tyr1596=
XM_005261931.1:c.4791C>T	XP_005261988.1:p.Tyr1597=
XM_005261935.1:c.4710C>T	XP_005261992.1:p.Tyr1570=
XM_011530707.1:c.4890C>T	XP_011529009.1:p.Tyr1630=
XM_011530708.1:c.4842C>T	XP_011529010.1:p.Tyr1614=
XM_011530709.1:c.4818C>T	XP_011529011.1:p.Tyr1606=
XM_011530710.1:c.4815C>T	XP_011529012.1:p.Tyr1605=
XM_011530711.1:c.4815C>T	XP_011529013.1:p.Tyr1605=
XR_938344.1:n.4908C>T
NM_001365819.1:c.4713C>T	NP_001352748.1:p.Tyr1571=
XM_005261935.2:c.4710C>T	XP_005261992.1:p.Tyr1570=
XM_011530709.2:c.4818C>T	XP_011529011.1:p.Tyr1606=
XM_011530710.2:c.4815C>T	XP_011529012.1:p.Tyr1605=
XM_017028905.2:c.4740C>T	XP_016884394.1:p.Tyr1580=
NM_002972.4:c.4788C>T MANE Select	NP_002963.2:p.Tyr1596=