Canonical Allele Identifier: CA412194267

Gene: SBF1

Linked Data

• MyVariant Identifiers: chr22:g.50893484T>G (hg19) ; chr22:g.50455055T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50455055T>G , CM000684.2:g.50455055T>G	GRCh38
NC_000022.10:g.50893484T>G , CM000684.1:g.50893484T>G	GRCh37
NC_000022.9:g.49240350T>G	NCBI36
NG_041810.1:g.25017A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.4564A>C	ENSP00000252027.8:p.Thr1522Pro
ENST00000418590.4:c.274A>C	ENSP00000401538.2:p.Thr92Pro
ENST00000470434.2:n.1045A>C
ENST00000684986.1:c.4645A>C	ENSP00000509117.1:p.Thr1549Pro
ENST00000685180.1:n.2488+5479A>C
ENST00000685390.1:n.2610A>C
ENST00000685411.1:n.392A>C
ENST00000685592.1:c.876A>C
ENST00000685809.1:c.4555A>C	ENSP00000508863.1:p.Thr1519Pro
ENST00000686029.1:c.720A>C
ENST00000686191.1:n.3842A>C
ENST00000686222.1:c.*4064A>C	ENSP00000508737.1:n.*4064A>C
ENST00000686321.1:c.738A>C
ENST00000686427.1:c.*1577A>C	ENSP00000510379.1:n.*1577A>C
ENST00000686758.1:n.2385A>C
ENST00000686801.1:c.4630A>C	ENSP00000509915.1:p.Thr1544Pro
ENST00000686826.1:n.961A>C
ENST00000687016.1:c.4543A>C	ENSP00000509074.1:p.Thr1515Pro
ENST00000687704.1:c.*2367A>C	ENSP00000510454.1:n.*2367A>C
ENST00000688066.1:c.4642A>C	ENSP00000510782.1:p.Thr1548Pro
ENST00000688124.1:c.*3560A>C	ENSP00000510645.1:n.*3560A>C
ENST00000688848.1:c.*3986A>C	ENSP00000509419.1:n.*3986A>C
ENST00000688985.1:c.1643A>C	ENSP00000510477.1:n.1643A>C
ENST00000689129.1:c.4567A>C	ENSP00000510414.1:p.Thr1523Pro
ENST00000689177.1:n.5914A>C
ENST00000689849.1:c.738A>C
ENST00000689981.1:c.4642A>C	ENSP00000509035.1:p.Thr1548Pro
ENST00000690369.1:n.4660A>C
ENST00000690590.1:n.1689A>C
ENST00000690990.1:c.4636A>C	ENSP00000510461.1:p.Thr1546Pro
ENST00000691233.1:c.4561A>C	ENSP00000509215.1:p.Thr1521Pro
ENST00000691306.1:c.740A>C
ENST00000691345.1:n.2302+1161A>C
ENST00000691792.1:c.4630A>C	ENSP00000509911.1:p.Thr1544Pro
ENST00000691959.1:n.5361A>C
ENST00000692844.1:n.1726A>C
ENST00000692946.1:c.738A>C
ENST00000693052.1:c.4660A>C	ENSP00000509558.1:p.Thr1554Pro
ENST00000693289.1:n.1801A>C
ENST00000693440.1:c.4639A>C	ENSP00000509462.1:p.Thr1547Pro
ENST00000693499.1:n.5567A>C
ENST00000693591.1:n.3379A>C
ENST00000380817.8:c.4642A>C MANE Select	ENSP00000370196.2:p.Thr1548Pro
ENST00000348911.10:c.4567A>C	ENSP00000252027.7:p.Thr1523Pro
ENST00000380817.7:c.4642A>C	ENSP00000370196.2:p.Thr1548Pro
ENST00000418590.3:c.242A>C
ENST00000470434.1:n.783A>C
NM_002972.3:c.4642A>C	NP_002963.2:p.Thr1548Pro
XM_005261931.1:c.4645A>C	XP_005261988.1:p.Thr1549Pro
XM_005261935.1:c.4564A>C	XP_005261992.1:p.Thr1522Pro
XM_011530707.1:c.4744A>C	XP_011529009.1:p.Thr1582Pro
XM_011530708.1:c.4696A>C	XP_011529010.1:p.Thr1566Pro
XM_011530709.1:c.4672A>C	XP_011529011.1:p.Thr1558Pro
XM_011530710.1:c.4669A>C	XP_011529012.1:p.Thr1557Pro
XM_011530711.1:c.4669A>C	XP_011529013.1:p.Thr1557Pro
XR_938344.1:n.4762A>C
NM_001365819.1:c.4567A>C	NP_001352748.1:p.Thr1523Pro
XM_005261935.2:c.4564A>C	XP_005261992.1:p.Thr1522Pro
XM_011530709.2:c.4672A>C	XP_011529011.1:p.Thr1558Pro
XM_011530710.2:c.4669A>C	XP_011529012.1:p.Thr1557Pro
XM_017028905.2:c.4594A>C	XP_016884394.1:p.Thr1532Pro
NM_002972.4:c.4642A>C MANE Select	NP_002963.2:p.Thr1548Pro