Canonical Allele Identifier: CA10317457

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50462920C>G , CM000684.2:g.50462920C>G	GRCh38
NC_000022.10:g.50901349C>G , CM000684.1:g.50901349C>G	GRCh37
NC_000022.9:g.49248215C>G	NCBI36
NG_041810.1:g.17152G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.1918G>C MANE Select	NP_002963.2:p.Glu640Gln
ENST00000380817.8:c.1918G>C MANE Select	ENSP00000370196.2:p.Glu640Gln
NM_001365819.1:c.1921G>C	NP_001352748.1:p.Glu641Gln
NM_002972.3:c.1918G>C	NP_002963.2:p.Glu640Gln
ENST00000348911.10:c.1921G>C	ENSP00000252027.7:p.Glu641Gln
ENST00000348911.11:c.1918G>C	ENSP00000252027.8:p.Glu640Gln
ENST00000380817.7:c.1918G>C	ENSP00000370196.2:p.Glu640Gln
ENST00000684986.1:c.1921G>C	ENSP00000509117.1:p.Glu641Gln
ENST00000685180.1:n.1421G>C
ENST00000685390.1:n.9G>C
ENST00000685809.1:c.1912G>C	ENSP00000508863.1:p.Glu638Gln
ENST00000686222.1:c.*1343G>C	ENSP00000508737.1:n.*1343G>C
ENST00000686427.1:c.1918G>C	ENSP00000510379.1:p.Glu640Gln
ENST00000686801.1:c.1909G>C	ENSP00000509915.1:p.Glu637Gln
ENST00000687016.1:c.1912G>C	ENSP00000509074.1:p.Glu638Gln
ENST00000687704.1:c.1918G>C	ENSP00000510454.1:p.Glu640Gln
ENST00000688066.1:c.1921G>C	ENSP00000510782.1:p.Glu641Gln
ENST00000688124.1:c.*912G>C	ENSP00000510645.1:n.*912G>C
ENST00000688848.1:c.*1343G>C	ENSP00000509419.1:n.*1343G>C
ENST00000689129.1:c.1921G>C	ENSP00000510414.1:p.Glu641Gln
ENST00000689981.1:c.1918G>C	ENSP00000509035.1:p.Glu640Gln
ENST00000690369.1:n.1939G>C
ENST00000690990.1:c.1912G>C	ENSP00000510461.1:p.Glu638Gln
ENST00000691233.1:c.1918G>C	ENSP00000509215.1:p.Glu640Gln
ENST00000691345.1:n.182G>C
ENST00000691792.1:c.1918G>C	ENSP00000509911.1:p.Glu640Gln
ENST00000691959.1:n.1560G>C
ENST00000693052.1:c.1918G>C	ENSP00000509558.1:p.Glu640Gln
ENST00000693440.1:c.1918G>C	ENSP00000509462.1:p.Glu640Gln
ENST00000693499.1:n.1563G>C
XM_005261931.1:c.1921G>C	XP_005261988.1:p.Glu641Gln
XM_005261935.1:c.1918G>C	XP_005261992.1:p.Glu640Gln
XM_005261935.2:c.1918G>C	XP_005261992.1:p.Glu640Gln
XM_011530707.1:c.2020G>C	XP_011529009.1:p.Glu674Gln
XM_011530708.1:c.1972G>C	XP_011529010.1:p.Glu658Gln
XM_011530709.1:c.1948G>C	XP_011529011.1:p.Glu650Gln
XM_011530709.2:c.1948G>C	XP_011529011.1:p.Glu650Gln
XM_011530710.1:c.1945G>C	XP_011529012.1:p.Glu649Gln
XM_011530710.2:c.1945G>C	XP_011529012.1:p.Glu649Gln
XM_011530711.1:c.2023G>C	XP_011529013.1:p.Glu675Gln
XM_017028905.2:c.1948G>C	XP_016884394.1:p.Glu650Gln
XR_938344.1:n.2038G>C