Canonical Allele Identifier: CA10317613

Gene: SBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50464600T>A , CM000684.2:g.50464600T>A	GRCh38
NC_000022.10:g.50903029T>A , CM000684.1:g.50903029T>A	GRCh37
NC_000022.9:g.49249895T>A	NCBI36
NG_041810.1:g.15472A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348911.11:c.1570A>T	ENSP00000252027.8:p.Met524Leu
ENST00000684986.1:c.1573A>T	ENSP00000509117.1:p.Met525Leu
ENST00000685180.1:n.626A>T
ENST00000685239.1:c.477A>T	ENSP00000509640.1:n.477A>T
ENST00000685809.1:c.1564A>T	ENSP00000508863.1:p.Met522Leu
ENST00000686222.1:c.*995A>T	ENSP00000508737.1:n.*995A>T
ENST00000686427.1:c.1570A>T	ENSP00000510379.1:p.Met524Leu
ENST00000686801.1:c.1561A>T	ENSP00000509915.1:p.Met521Leu
ENST00000687016.1:c.1564A>T	ENSP00000509074.1:p.Met522Leu
ENST00000687704.1:c.1570A>T	ENSP00000510454.1:p.Met524Leu
ENST00000688066.1:c.1573A>T	ENSP00000510782.1:p.Met525Leu
ENST00000688124.1:c.*564A>T	ENSP00000510645.1:n.*564A>T
ENST00000688848.1:c.*995A>T	ENSP00000509419.1:n.*995A>T
ENST00000689129.1:c.1573A>T	ENSP00000510414.1:p.Met525Leu
ENST00000689981.1:c.1570A>T	ENSP00000509035.1:p.Met524Leu
ENST00000690369.1:n.1591A>T
ENST00000690990.1:c.1564A>T	ENSP00000510461.1:p.Met522Leu
ENST00000691233.1:c.1570A>T	ENSP00000509215.1:p.Met524Leu
ENST00000691792.1:c.1570A>T	ENSP00000509911.1:p.Met524Leu
ENST00000691959.1:n.1212A>T
ENST00000693052.1:c.1570A>T	ENSP00000509558.1:p.Met524Leu
ENST00000693440.1:c.1570A>T	ENSP00000509462.1:p.Met524Leu
ENST00000693499.1:n.319A>T
ENST00000380817.8:c.1570A>T MANE Select	ENSP00000370196.2:p.Met524Leu
ENST00000348911.10:c.1573A>T	ENSP00000252027.7:p.Met525Leu
ENST00000380817.7:c.1570A>T	ENSP00000370196.2:p.Met524Leu
NM_002972.3:c.1570A>T	NP_002963.2:p.Met524Leu
XM_005261931.1:c.1573A>T	XP_005261988.1:p.Met525Leu
XM_005261935.1:c.1570A>T	XP_005261992.1:p.Met524Leu
XM_011530707.1:c.1672A>T	XP_011529009.1:p.Met558Leu
XM_011530708.1:c.1624A>T	XP_011529010.1:p.Met542Leu
XM_011530709.1:c.1600A>T	XP_011529011.1:p.Met534Leu
XM_011530710.1:c.1597A>T	XP_011529012.1:p.Met533Leu
XM_011530711.1:c.1675A>T	XP_011529013.1:p.Met559Leu
XR_938344.1:n.1690A>T
NM_001365819.1:c.1573A>T	NP_001352748.1:p.Met525Leu
XM_005261935.2:c.1570A>T	XP_005261992.1:p.Met524Leu
XM_011530709.2:c.1600A>T	XP_011529011.1:p.Met534Leu
XM_011530710.2:c.1597A>T	XP_011529012.1:p.Met533Leu
XM_017028905.2:c.1600A>T	XP_016884394.1:p.Met534Leu
NM_002972.4:c.1570A>T MANE Select	NP_002963.2:p.Met524Leu