Canonical Allele Identifier: CA2580072425

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070592A>C , CM000667.2:g.122070592A>C	GRCh38
NC_000005.9:g.121406287A>C , CM000667.1:g.121406287A>C	GRCh37
NC_000005.8:g.121434186A>C	NCBI36
NG_008722.1:g.12769T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002317.7:c.1036-3T>G (LOX) MANE Select	NP_002308.2:n.1036-3T>G
ENST00000231004.5:c.1036-3T>G (LOX) MANE Select	ENSP00000231004.4:n.1036-3T>G
NM_001178102.1:c.346-3T>G (LOX)	NP_001171573.1:n.346-3T>G
NM_001178102.2:c.346-3T>G (LOX)	NP_001171573.1:n.346-3T>G
NM_001317073.1:c.145-3T>G (LOX)	NP_001304002.1:n.145-3T>G
NM_002317.5:c.1036-3T>G (LOX)	NP_002308.2:n.1036-3T>G
NM_002317.6:c.1036-3T>G (LOX)	NP_002308.2:n.1036-3T>G
ENST00000231004.4:c.1036-3T>G (LOX)	ENSP00000231004.4:n.1036-3T>G
ENST00000503759.5:n.627-3T>G (LOX)
ENST00000504881.1:n.312-4723A>C (SRFBP1)
ENST00000505593.5:n.362-3T>G (LOX)
ENST00000508067.1:c.492-3T>G (LOX)	ENSP00000427538.1:n.492-3T>G
ENST00000513319.5:n.379-3T>G (LOX)
ENST00000639739.2:c.*228-3T>G (LOX)	ENSP00000492324.2:n.*228-3T>G
XM_017009111.2:c.1106-4723A>C (SRFBP1)	XP_016864600.2:n.1106-4723A>C