Canonical Allele Identifier: CA360881270

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122074014T>C , CM000667.2:g.122074014T>C	GRCh38
NC_000005.9:g.121409709T>C , CM000667.1:g.121409709T>C	GRCh37
NC_000005.8:g.121437608T>C	NCBI36
NG_008722.1:g.9347A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002317.7:c.1034A>G (LOX) MANE Select	NP_002308.2:p.Gln345Arg
ENST00000231004.5:c.1034A>G (LOX) MANE Select	ENSP00000231004.4:p.Gln345Arg
NM_001178102.1:c.344A>G (LOX)	NP_001171573.1:p.Gln115Arg
NM_001178102.2:c.344A>G (LOX)	NP_001171573.1:p.Gln115Arg
NM_001317073.1:c.143A>G (LOX)	NP_001304002.1:p.Gln48Arg
NM_002317.5:c.1034A>G (LOX)	NP_002308.2:p.Gln345Arg
NM_002317.6:c.1034A>G (LOX)	NP_002308.2:p.Gln345Arg
ENST00000231004.4:c.1034A>G (LOX)	ENSP00000231004.4:p.Gln345Arg
ENST00000503759.5:n.625A>G (LOX)
ENST00000504881.1:n.312-1301T>C (SRFBP1)
ENST00000505593.5:n.360A>G (LOX)
ENST00000508067.1:c.412A>G (LOX)	ENSP00000427538.1:n.412A>G
ENST00000513319.5:n.377A>G (LOX)
ENST00000639739.2:c.*226A>G (LOX)	ENSP00000492324.2:n.*226A>G
XM_017009111.2:c.1106-1301T>C (SRFBP1)	XP_016864600.2:n.1106-1301T>C