Canonical Allele Identifier: CA125945697

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070075C>T , CM000667.2:g.122070075C>T	GRCh38
NC_000005.9:g.121405770C>T , CM000667.1:g.121405770C>T	GRCh37
NC_000005.8:g.121433669C>T	NCBI36
NG_008722.1:g.13286G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002317.7:c.1225G>A (LOX) MANE Select	NP_002308.2:p.Ala409Thr
ENST00000231004.5:c.1225G>A (LOX) MANE Select	ENSP00000231004.4:p.Ala409Thr
NM_001178102.1:c.535G>A (LOX)	NP_001171573.1:p.Ala179Thr
NM_001178102.2:c.535G>A (LOX)	NP_001171573.1:p.Ala179Thr
NM_001317073.1:c.334G>A (LOX)	NP_001304002.1:p.Ala112Thr
NM_002317.5:c.1225G>A (LOX)	NP_002308.2:p.Ala409Thr
NM_002317.6:c.1225G>A (LOX)	NP_002308.2:p.Ala409Thr
ENST00000231004.4:c.1225G>A (LOX)	ENSP00000231004.4:p.Ala409Thr
ENST00000503759.5:n.816G>A (LOX)
ENST00000504881.1:n.312-5240C>T (SRFBP1)
ENST00000505593.5:n.551G>A (LOX)
ENST00000513319.5:n.568G>A (LOX)
ENST00000639739.2:c.*417G>A (LOX)	ENSP00000492324.2:n.*417G>A
XM_017009111.2:c.1106-5240C>T (SRFBP1)	XP_016864600.2:n.1106-5240C>T