Canonical Allele Identifier: CA360881344

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122074027T>G , CM000667.2:g.122074027T>G	GRCh38
NC_000005.9:g.121409722T>G , CM000667.1:g.121409722T>G	GRCh37
NC_000005.8:g.121437621T>G	NCBI36
NG_008722.1:g.9334A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002317.7:c.1021A>C (LOX) MANE Select	NP_002308.2:p.Thr341Pro
ENST00000231004.5:c.1021A>C (LOX) MANE Select	ENSP00000231004.4:p.Thr341Pro
NM_001178102.1:c.331A>C (LOX)	NP_001171573.1:p.Thr111Pro
NM_001178102.2:c.331A>C (LOX)	NP_001171573.1:p.Thr111Pro
NM_001317073.1:c.130A>C (LOX)	NP_001304002.1:p.Thr44Pro
NM_002317.5:c.1021A>C (LOX)	NP_002308.2:p.Thr341Pro
NM_002317.6:c.1021A>C (LOX)	NP_002308.2:p.Thr341Pro
ENST00000231004.4:c.1021A>C (LOX)	ENSP00000231004.4:p.Thr341Pro
ENST00000503759.5:n.612A>C (LOX)
ENST00000504881.1:n.312-1288T>G (SRFBP1)
ENST00000505593.5:n.347A>C (LOX)
ENST00000508067.1:c.399A>C (LOX)	ENSP00000427538.1:n.399A>C
ENST00000513319.5:n.364A>C (LOX)
ENST00000639739.2:c.*213A>C (LOX)	ENSP00000492324.2:n.*213A>C
XM_017009111.2:c.1106-1288T>G (SRFBP1)	XP_016864600.2:n.1106-1288T>G