Canonical Allele Identifier: CA2674996474

Gene: LOX SRFBP1

Linked Data

• gnomAD v4: 5-122070380-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122070380A>T , CM000667.2:g.122070380A>T	GRCh38
NC_000005.9:g.121406075A>T , CM000667.1:g.121406075A>T	GRCh37
NC_000005.8:g.121433974A>T	NCBI36
NG_008722.1:g.12981T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231004.5:c.1131+114T>A (LOX) MANE Select	ENSP00000231004.4:n.1131+114T>A
ENST00000639739.2:c.*323+114T>A (LOX)	ENSP00000492324.2:n.*323+114T>A
ENST00000231004.4:c.1131+114T>A (LOX)	ENSP00000231004.4:n.1131+114T>A
ENST00000503759.5:n.722+114T>A (LOX)
ENST00000504881.1:n.312-4935A>T (SRFBP1)
ENST00000505593.5:n.457+114T>A (LOX)
ENST00000513319.5:n.474+114T>A (LOX)
NM_001178102.1:c.441+114T>A (LOX)	NP_001171573.1:n.441+114T>A
NM_001178102.2:c.441+114T>A (LOX)	NP_001171573.1:n.441+114T>A
NM_001317073.1:c.240+114T>A (LOX)	NP_001304002.1:n.240+114T>A
NM_002317.5:c.1131+114T>A (LOX)	NP_002308.2:n.1131+114T>A
NM_002317.6:c.1131+114T>A (LOX)	NP_002308.2:n.1131+114T>A
XM_017009111.2:c.1106-4935A>T (SRFBP1)	XP_016864600.2:n.1106-4935A>T
NM_002317.7:c.1131+114T>A (LOX) MANE Select	NP_002308.2:n.1131+114T>A