Canonical Allele Identifier: CA360882314

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122075543T>G , CM000667.2:g.122075543T>G	GRCh38
NC_000005.9:g.121411238T>G , CM000667.1:g.121411238T>G	GRCh37
NC_000005.8:g.121439137T>G	NCBI36
NG_008722.1:g.7818A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002317.7:c.741-2A>C (LOX) MANE Select	NP_002308.2:n.741-2A>C
ENST00000231004.5:c.741-2A>C (LOX) MANE Select	ENSP00000231004.4:n.741-2A>C
NM_001178102.1:c.51-2A>C (LOX)	NP_001171573.1:n.51-2A>C
NM_001178102.2:c.51-2A>C (LOX)	NP_001171573.1:n.51-2A>C
NM_001317073.1:c.-151-2A>C (LOX)	NP_001304002.1:n.-151-2A>C
NM_002317.5:c.741-2A>C (LOX)	NP_002308.2:n.741-2A>C
NM_002317.6:c.741-2A>C (LOX)	NP_002308.2:n.741-2A>C
ENST00000231004.4:c.741-2A>C (LOX)	ENSP00000231004.4:n.741-2A>C
ENST00000503759.5:n.332-2A>C (LOX)
ENST00000504881.1:n.540T>G (SRFBP1)
ENST00000505593.5:n.67-2A>C (LOX)
ENST00000508067.1:c.119-2A>C (LOX)	ENSP00000427538.1:n.119-2A>C
ENST00000513319.5:n.84-2A>C (LOX)
ENST00000639739.2:c.632-2A>C (LOX)	ENSP00000492324.2:n.632-2A>C
XM_017009111.2:c.*218T>G (SRFBP1)	XP_016864600.2:n.*218T>G