Canonical Allele Identifier: CA360881856

Gene: LOX SRFBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.122074155A>G , CM000667.2:g.122074155A>G	GRCh38
NC_000005.9:g.121409850A>G , CM000667.1:g.121409850A>G	GRCh37
NC_000005.8:g.121437749A>G	NCBI36
NG_008722.1:g.9206T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002317.7:c.893T>C (LOX) MANE Select	NP_002308.2:p.Met298Thr
ENST00000231004.5:c.893T>C (LOX) MANE Select	ENSP00000231004.4:p.Met298Thr
NM_001178102.1:c.203T>C (LOX)	NP_001171573.1:p.Met68Thr
NM_001178102.2:c.203T>C (LOX)	NP_001171573.1:p.Met68Thr
NM_001317073.1:c.2T>C (LOX)	NP_001304002.1:p.Met1Thr
NM_002317.5:c.893T>C (LOX)	NP_002308.2:p.Met298Thr
NM_002317.6:c.893T>C (LOX)	NP_002308.2:p.Met298Thr
ENST00000231004.4:c.893T>C (LOX)	ENSP00000231004.4:p.Met298Thr
ENST00000503759.5:n.484T>C (LOX)
ENST00000504881.1:n.312-1160A>G (SRFBP1)
ENST00000505593.5:n.219T>C (LOX)
ENST00000508067.1:c.271T>C (LOX)	ENSP00000427538.1:n.271T>C
ENST00000513319.5:n.236T>C (LOX)
ENST00000639739.2:c.*85T>C (LOX)	ENSP00000492324.2:n.*85T>C
XM_017009111.2:c.1106-1160A>G (SRFBP1)	XP_016864600.2:n.1106-1160A>G