Canonical Allele Identifier: CA2674996429

Gene: LOX SRFBP1

Linked Data

• gnomAD v4: 5-122070313-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070313A>G , CM000667.2:g.122070313A>G	GRCh38
NC_000005.9:g.121406008A>G , CM000667.1:g.121406008A>G	GRCh37
NC_000005.8:g.121433907A>G	NCBI36
NG_008722.1:g.13048T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000231004.5:c.1132-145T>C (LOX) MANE Select	ENSP00000231004.4:n.1132-145T>C
ENST00000639739.2:c.*324-145T>C (LOX)	ENSP00000492324.2:n.*324-145T>C
ENST00000231004.4:c.1132-145T>C (LOX)	ENSP00000231004.4:n.1132-145T>C
ENST00000503759.5:n.723-145T>C (LOX)
ENST00000504881.1:n.312-5002A>G (SRFBP1)
ENST00000505593.5:n.458-145T>C (LOX)
ENST00000513319.5:n.475-145T>C (LOX)
NM_001178102.1:c.442-145T>C (LOX)	NP_001171573.1:n.442-145T>C
NM_001178102.2:c.442-145T>C (LOX)	NP_001171573.1:n.442-145T>C
NM_001317073.1:c.241-145T>C (LOX)	NP_001304002.1:n.241-145T>C
NM_002317.5:c.1132-145T>C (LOX)	NP_002308.2:n.1132-145T>C
NM_002317.6:c.1132-145T>C (LOX)	NP_002308.2:n.1132-145T>C
XM_017009111.2:c.1106-5002A>G (SRFBP1)	XP_016864600.2:n.1106-5002A>G
NM_002317.7:c.1132-145T>C (LOX) MANE Select	NP_002308.2:n.1132-145T>C