Canonical Allele Identifier: CA1578378598

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122075519dup , CM000667.2:g.122075519dup	GRCh38
NC_000005.9:g.121411214dup , CM000667.1:g.121411214dup	GRCh37
NC_000005.8:g.121439113dup	NCBI36
NG_008722.1:g.7842dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.763dup (LOX) MANE Select	ENSP00000231004.4:p.Arg255LysfsTer4
ENST00000639739.2:c.654dup (LOX)	ENSP00000492324.2:p.Glu219ArgfsTer?
ENST00000231004.4:c.763dup (LOX)	ENSP00000231004.4:p.Arg255LysfsTer4
ENST00000503759.5:n.354dup (LOX)
ENST00000504881.1:n.516dup (SRFBP1)
ENST00000505593.5:n.89dup (LOX)
ENST00000508067.1:c.141dup (LOX)	ENSP00000427538.1:p.Glu48ArgfsTer?
ENST00000513319.5:n.106dup (LOX)
NM_001178102.1:c.73dup (LOX)	NP_001171573.1:p.Arg25LysfsTer4
NM_001178102.2:c.73dup (LOX)	NP_001171573.1:p.Arg25LysfsTer4
NM_001317073.1:c.-129dup (LOX)	NP_001304002.1:n.-129dup
NM_002317.5:c.763dup (LOX)	NP_002308.2:p.Arg255LysfsTer4
NM_002317.6:c.763dup (LOX)	NP_002308.2:p.Arg255LysfsTer4
XM_017009111.2:c.*194dup (SRFBP1)	XP_016864600.2:n.*194dup
NM_002317.7:c.763dup (LOX) MANE Select	NP_002308.2:p.Arg255LysfsTer4