Canonical Allele Identifier: CA125948733

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122074133G>T , CM000667.2:g.122074133G>T	GRCh38
NC_000005.9:g.121409828G>T , CM000667.1:g.121409828G>T	GRCh37
NC_000005.8:g.121437727G>T	NCBI36
NG_008722.1:g.9228C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002317.7:c.915C>A (LOX) MANE Select	NP_002308.2:p.Asp305Glu
ENST00000231004.5:c.915C>A (LOX) MANE Select	ENSP00000231004.4:p.Asp305Glu
NM_001178102.1:c.225C>A (LOX)	NP_001171573.1:p.Asp75Glu
NM_001178102.2:c.225C>A (LOX)	NP_001171573.1:p.Asp75Glu
NM_001317073.1:c.24C>A (LOX)	NP_001304002.1:p.Asp8Glu
NM_002317.5:c.915C>A (LOX)	NP_002308.2:p.Asp305Glu
NM_002317.6:c.915C>A (LOX)	NP_002308.2:p.Asp305Glu
ENST00000231004.4:c.915C>A (LOX)	ENSP00000231004.4:p.Asp305Glu
ENST00000503759.5:n.506C>A (LOX)
ENST00000504881.1:n.312-1182G>T (SRFBP1)
ENST00000505593.5:n.241C>A (LOX)
ENST00000508067.1:c.293C>A (LOX)	ENSP00000427538.1:n.293C>A
ENST00000513319.5:n.258C>A (LOX)
ENST00000639739.2:c.*107C>A (LOX)	ENSP00000492324.2:n.*107C>A
XM_017009111.2:c.1106-1182G>T (SRFBP1)	XP_016864600.2:n.1106-1182G>T