Canonical Allele Identifier: CA2674996423

Gene: LOX SRFBP1

Linked Data

• gnomAD v4: 5-122070299-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070299C>A , CM000667.2:g.122070299C>A	GRCh38
NC_000005.9:g.121405994C>A , CM000667.1:g.121405994C>A	GRCh37
NC_000005.8:g.121433893C>A	NCBI36
NG_008722.1:g.13062G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000231004.5:c.1132-131G>T (LOX) MANE Select	ENSP00000231004.4:n.1132-131G>T
ENST00000639739.2:c.*324-131G>T (LOX)	ENSP00000492324.2:n.*324-131G>T
ENST00000231004.4:c.1132-131G>T (LOX)	ENSP00000231004.4:n.1132-131G>T
ENST00000503759.5:n.723-131G>T (LOX)
ENST00000504881.1:n.312-5016C>A (SRFBP1)
ENST00000505593.5:n.458-131G>T (LOX)
ENST00000513319.5:n.475-131G>T (LOX)
NM_001178102.1:c.442-131G>T (LOX)	NP_001171573.1:n.442-131G>T
NM_001178102.2:c.442-131G>T (LOX)	NP_001171573.1:n.442-131G>T
NM_001317073.1:c.241-131G>T (LOX)	NP_001304002.1:n.241-131G>T
NM_002317.5:c.1132-131G>T (LOX)	NP_002308.2:n.1132-131G>T
NM_002317.6:c.1132-131G>T (LOX)	NP_002308.2:n.1132-131G>T
XM_017009111.2:c.1106-5016C>A (SRFBP1)	XP_016864600.2:n.1106-5016C>A
NM_002317.7:c.1132-131G>T (LOX) MANE Select	NP_002308.2:n.1132-131G>T