Canonical Allele Identifier: CA10316846

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50460416C>G , CM000684.2:g.50460416C>G	GRCh38
NC_000022.10:g.50898845C>G , CM000684.1:g.50898845C>G	GRCh37
NC_000022.9:g.49245711C>G	NCBI36
NG_041810.1:g.19656G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002972.4:c.3147-8G>C MANE Select	NP_002963.2:n.3147-8G>C
ENST00000380817.8:c.3147-8G>C MANE Select	ENSP00000370196.2:n.3147-8G>C
NM_001365819.1:c.3150-8G>C	NP_001352748.1:n.3150-8G>C
NM_002972.3:c.3147-8G>C	NP_002963.2:n.3147-8G>C
ENST00000348911.10:c.3150-8G>C	ENSP00000252027.7:n.3150-8G>C
ENST00000348911.11:c.3147-8G>C	ENSP00000252027.8:n.3147-8G>C
ENST00000380817.7:c.3147-8G>C	ENSP00000370196.2:n.3147-8G>C
ENST00000684986.1:c.3150-8G>C	ENSP00000509117.1:n.3150-8G>C
ENST00000685180.1:n.2488+118G>C
ENST00000685386.1:c.990-8G>C	ENSP00000510338.1:n.990-8G>C
ENST00000685390.1:n.1390-8G>C
ENST00000685809.1:c.3138-8G>C	ENSP00000508863.1:n.3138-8G>C
ENST00000686222.1:c.*2569-8G>C	ENSP00000508737.1:n.*2569-8G>C
ENST00000686427.1:c.*160-8G>C	ENSP00000510379.1:n.*160-8G>C
ENST00000686801.1:c.3135-8G>C	ENSP00000509915.1:n.3135-8G>C
ENST00000687016.1:c.3126-8G>C	ENSP00000509074.1:n.3126-8G>C
ENST00000687704.1:c.*961-8G>C	ENSP00000510454.1:n.*961-8G>C
ENST00000688066.1:c.3147-8G>C	ENSP00000510782.1:n.3147-8G>C
ENST00000688124.1:c.*2141-8G>C	ENSP00000510645.1:n.*2141-8G>C
ENST00000688848.1:c.*2569-8G>C	ENSP00000509419.1:n.*2569-8G>C
ENST00000688985.1:c.153-8G>C	ENSP00000510477.1:n.153-8G>C
ENST00000689129.1:c.3150-8G>C	ENSP00000510414.1:n.3150-8G>C
ENST00000689177.1:n.998-8G>C
ENST00000689981.1:c.3147-8G>C	ENSP00000509035.1:n.3147-8G>C
ENST00000690369.1:n.3165-8G>C
ENST00000690990.1:c.3141-8G>C	ENSP00000510461.1:n.3141-8G>C
ENST00000691233.1:c.3144-8G>C	ENSP00000509215.1:n.3144-8G>C
ENST00000691345.1:n.1648-8G>C
ENST00000691792.1:c.3147-8G>C	ENSP00000509911.1:n.3147-8G>C
ENST00000691959.1:n.3026-8G>C
ENST00000692006.1:c.153-8G>C	ENSP00000509653.1:n.153-8G>C
ENST00000692844.1:n.24-8G>C
ENST00000693052.1:c.3147-8G>C	ENSP00000509558.1:n.3147-8G>C
ENST00000693440.1:c.3144-8G>C	ENSP00000509462.1:n.3144-8G>C
ENST00000693499.1:n.3238-8G>C
XM_005261931.1:c.3150-8G>C	XP_005261988.1:n.3150-8G>C
XM_005261935.1:c.3147-8G>C	XP_005261992.1:n.3147-8G>C
XM_005261935.2:c.3147-8G>C	XP_005261992.1:n.3147-8G>C
XM_011530707.1:c.3249-8G>C	XP_011529009.1:n.3249-8G>C
XM_011530708.1:c.3201-8G>C	XP_011529010.1:n.3201-8G>C
XM_011530709.1:c.3177-8G>C	XP_011529011.1:n.3177-8G>C
XM_011530709.2:c.3177-8G>C	XP_011529011.1:n.3177-8G>C
XM_011530710.1:c.3174-8G>C	XP_011529012.1:n.3174-8G>C
XM_011530710.2:c.3174-8G>C	XP_011529012.1:n.3174-8G>C
XM_011530711.1:c.3252-8G>C	XP_011529013.1:n.3252-8G>C
XM_017028905.2:c.3177-8G>C	XP_016884394.1:n.3177-8G>C
XR_938344.1:n.3267-8G>C