Canonical Allele Identifier: CA379643060

Gene: SBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9812576C>A , CM000673.2:g.9812576C>A	GRCh38
NC_000011.9:g.9834123C>A , CM000673.1:g.9834123C>A	GRCh37
NC_000011.8:g.9790699C>A	NCBI36
NG_008074.1:g.486632G>T , LRG_267:g.486632G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_030962.4:c.4111G>T MANE Select	NP_112224.1:p.Val1371Leu
ENST00000256190.13:c.4111G>T MANE Select	ENSP00000256190.8:p.Val1371Leu
NM_001386339.1:c.4207G>T	NP_001373268.1:p.Val1403Leu
NM_001386342.1:c.3982G>T	NP_001373271.1:p.Val1328Leu
NM_030962.3:c.4111G>T , LRG_267t1:c.4111G>T	NP_112224.1:p.Val1371Leu
ENST00000256190.12:c.4111G>T	ENSP00000256190.8:p.Val1371Leu
ENST00000524961.6:n.595G>T
ENST00000528478.1:n.179G>T
ENST00000530741.1:c.858G>T
ENST00000530741.2:c.2674G>T	ENSP00000432643.2:p.Val892Leu
ENST00000532095.2:n.647G>T
ENST00000617179.4:c.3970G>T	ENSP00000482806.1:p.Val1324Leu
ENST00000675281.1:c.4186G>T	ENSP00000502491.1:p.Val1396Leu
ENST00000675281.2:c.4186G>T	ENSP00000502491.1:p.Val1396Leu
ENST00000676324.1:c.*419G>T	ENSP00000502578.1:n.*419G>T
ENST00000676324.2:c.*419G>T	ENSP00000502578.1:n.*419G>T
ENST00000676387.1:c.4168G>T	ENSP00000502779.1:p.Val1390Leu
ENST00000676387.2:c.4168G>T	ENSP00000502779.1:p.Val1390Leu
ENST00000688344.1:c.3718G>T	ENSP00000509987.1:p.Val1240Leu
ENST00000689128.1:c.4207G>T	ENSP00000509587.1:p.Val1403Leu
ENST00000689258.1:c.4048G>T	ENSP00000510475.1:p.Val1350Leu
ENST00000689342.1:c.318G>T
ENST00000689356.1:n.1282G>T
ENST00000689597.1:c.2815G>T	ENSP00000510781.1:p.Val939Leu
ENST00000689940.1:c.4105G>T	ENSP00000508452.1:p.Val1369Leu
ENST00000690944.1:c.318G>T
ENST00000691616.1:n.595G>T
ENST00000692716.1:c.3982G>T	ENSP00000509545.1:p.Val1328Leu
ENST00000693541.1:n.1030G>T
XM_005253154.3:c.4207G>T	XP_005253211.1:p.Val1403Leu
XM_005253154.5:c.4207G>T	XP_005253211.1:p.Val1403Leu
XM_005253155.3:c.4078G>T	XP_005253212.1:p.Val1360Leu
XM_005253155.5:c.4078G>T	XP_005253212.1:p.Val1360Leu
XM_011520394.1:c.4093G>T	XP_011518696.1:p.Val1365Leu
XM_011520394.3:c.4093G>T	XP_011518696.1:p.Val1365Leu
XM_017018372.2:c.4069G>T	XP_016873861.1:p.Val1357Leu
XM_017018373.2:c.4069G>T	XP_016873862.1:p.Val1357Leu
XM_017018374.2:c.3982G>T	XP_016873863.1:p.Val1328Leu
XM_017018375.2:c.3970G>T	XP_016873864.1:p.Val1324Leu
XR_001747994.2:n.4345G>T